Homogentisic Acid and Gentisic Acid Biosynthesized Pyomelanin Mimics: Structural Characterization and Antioxidant Activity. Int J Mol Sci 22(4):1739 (2021). Al Khatib M, Costa J, Spinelli D, Capecchi E, Saladino R, Baratto MC, Pogni R. doi.org/10.3390/ijms22041739
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Via A. Moro 2, 53100 Siena, Italy.; Next Technology Tecnotessile, Via del Gelso 13, 59100 Prato, Italy.; Department of Ecology and Biology, University of Tuscia, 01100 Viterbo, Italy.
The “dark side” is the key. Ochronosis by alkaptonuria. Med Clin (Barc) 156(8):419 (2021). Buitrago-Toro K, Pastrana-Olaya K. doi.org/10.1016/j.medcli.2020.04.038
Universidad Surcolombiana, Neiva, Colombia. Electronic address: kenny9012@hotmail.com.; Universidad Surcolombiana, Neiva, Colombia
Alkaptonuria in Russia: mutational spectrum and novel variants. Eur J Med Genet 64(4):104165 (2021). Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. doi.org/10.1016/j.ejmg.2021.104165
Research Centre for Medical Genetics, Moscow, Russia. Electronic address: bychkov.nbo@gmail.com.; Research Centre for Medical Genetics, Moscow, Russia.; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina, Russia; Peter the Great St.Petersburg Polytechnic University, Saint-Petersburg, Russia.; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina, Russia.
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature. Curr Allergy Asthma Rep 21(3):19 (2021). Chu P, Cuellar MC, Bracken SJ, Tarrant TK. doi.org/10.1007/s11882-021-01002-1
Division of Rheumatology and Immunology, Department of Medicine, Duke University, Durham, NC, 27710, USA.; Division of Rheumatology, Department of Medicine, Hospital del Salvador, Santiago, Chile.; Department of Internal Medicine, Duke University, Durham, NC, 27710, USA.; Division of Rheumatology and Immunology, Department of Medicine, Duke University, Durham, NC, 27710, USA. teresa.tarrant@duke.edu.
Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease. Anal Chem 93(10):4521-4527 (2021). Dhyani R, Shankar K, Bhatt A, Jain S, Hussain A, Navani NK. doi.org/10.1021/acs.analchem.0c04914
Chemical Biology Laboratory, Department of Biotechnology, Indian Institute of Technology Roorkee, Roorkee 247667, Uttarakhand, India.
Ochronosis. N Engl J Med 384(5):461 (2021). Di Matteo B, Marcacci M. doi.org/10.1056/NEJMicm2025932
Humanitas Clinical and Research Center, IRCCS, Rozzano, Italy berardo.dimatteo@gmail.com
Ochronosis. (2021). Faridi W, Dhamoon AS. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK560534/
Dayton Interventional Radiology Group; SUNY Upstate Medical University
[Abnormal urine color assessment: The urine wheel]. Rev Med Interne S0248-8663(21):00052-7 (2021). Flamarion E, Reichert C, Sayegh C, de Saint Gilles D, Bariseel R, Arnoux JB, Schmitt C, Poli A, Karras A, Pouchot J, Cheminet G, Penet MA. doi.org/10.1016/j.revmed.2021.02.009
Hôpital Européen Georges Pompidou, Service de médecine interne, APHP-Centre, Université de Paris, France. Electronic address: edouard.flamarion@aphp.fr.; Hôpital Européen Georges Pompidou, Service de médecine interne, APHP-Centre, Université de Paris, France.; Hôpital Necker Enfants Malades, Centre de Référence des Maladies Héréditaires du Métabolisme, APHP-Centre, Université de Paris, France.; Hôpital Louis Mourier, Centre Français des Porphyries, APHP-Nord, Centre de recherche sur l’inflammation, INSERM U1149, Université de Paris, France.; Hôpital Européen Georges Pompidou, Service de néphrologie, APHP-Centre, Université de Paris, France.
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage. J Cell Physiol 236(8):6011-6024 (2021). Galderisi S, Cicaloni V, Milella MS, Millucci L, Geminiani M, Salvini L, Tinti L, Tinti C, Vieira OV, Alves LS, Crevenna AH, Spiga O, Santucci A. doi.org/10.1002/jcp.30284
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Toscana Life Sciences Foundation, Siena, Italy.; NOVA Medical School, 3CEDOC, Faculdade de Ciências Médicas, Lisboa, Portugal.; European Molecular Biology Laboratory, Monterotondo (RM), Italy.
Pseudo mechanic’s hand-a pointer to alkaptonuria. Rheumatology (Oxford) 60(1):472 (2021). Gopal A, Shah S, Adarsh MB, Kavadichanda C, Negi VS. doi.org/10.1093/rheumatology/keaa342
Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education & Research, Pondicherry, India
[Ocular clinical findings in alkaptonuria: A case report]. J Fr Ophtalmol 44(6):e323-e325 (2021). Graceffa N, Sohet AS, Levecq L. doi.org/10.1016/j.jfo.2020.09.026
Service d’ophtalmologie, CHU UCL Namur, UCLouvain, avenue du Docteur-Thérasse, 1, 5530 Yvoir, Belgique.; Service d’ophtalmologie, CHU UCL Namur, UCLouvain, avenue du Docteur-Thérasse, 1, 5530 Yvoir, Belgique. Electronic address: laurent.levecq@uclouvain.be.
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces. Calcif Tissue Int 108(2):207-218 (2021). Hughes JH, Keenan CM, Sutherland H, Edwards HR, Wilson PJM, Ranganath LR, Jarvis JC, Bou-Gharios G, Gallagher JA. doi.org/10.1007/s00223-020-00764-6
Department of Musculoskeletal & Ageing Science, Institute of Life Course and Medical Science, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK. jhhughes@liverpool.ac.uk.; School of Biological and Environmental Sciences, Faculty of Science, Liverpool John Moores University, Liverpool, L3 3AF, UK.; Department of Musculoskeletal & Ageing Science, Institute of Life Course and Medical Science, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK.; School of Sport and Exercise Science, Faculty of Science, Liverpool John Moores University, Liverpool, L3 3AF, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK.; Department of Musculoskeletal & Ageing Science, Institute of Life Course and Medical Science, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK. j.a.gallagher@liverpool.ac.uk.
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients. Eur J Med Genet 64(5):104197 (2021). Kisa PT, Gunduz M, Dorum S, Uzun OU, Cakar NE, Yildirim GK, Erdol S, Hismi BO, Tugsal HY, Ucar U, Gorukmez O, Gulten ZA, Kucukcongar A, Bulbul S, Sari I, Arslan N. doi.org/10.1016/j.ejmg.2021.104197
Department of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.; Department of Pediatric Metabolism and Nutrition, Ministry of Health Ankara City Hospital, Ankara, Turkey.; Department of Pediatric Metabolism and Nutrition, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.; Department of Pediatric Metabolism and Nutrition, Okmeydani Training and Research Hospital, Istanbul, Turkey.; Department of Pediatric Metabolism and Nutrition, Osmangazi University Faculty of Medicine, Eskisehir, Turkey.; Department of Pediatric Metabolism and Nutrition, Uludag University Faculty of Medicine, Bursa, Turkey.; Department of Pediatric Metabolism and Nutrition, Marmara University Faculty of Medicine, Istanbul, Turkey.; Department of Rheumatology, Agri State Hospital, Agri, Turkey.; Department of Rheumatology, University of Health Sciences Antalya Training and Research Hospital, Antalya, Turkey.; Department of Medical Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.; Department of Pediatric Metabolism and Nutrition, Kirikkale University Faculty of Medicine, Kirikkale, Turkey.; Department of Rheumatology, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.; Department of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey; Izmir Biomedicine and Genome Center, Izmir, Turkey. Electronic address: nur.arslan@deu.edu.tr.
A targeted ultra performance liquid chromatography – Tandem mass spectrometric assay for tyrosine and metabolites in urine and plasma: Application to the effects of antibiotics on mice. J Chromatogr B Analyt Technol Biomed Life Sci 1164:122511 (2021). Letertre MPM, Myridakis A, Whiley L, Camuzeaux S, Lewis MR, Chappell KE, Thaikkatil A, Dumas ME, Nicholson JK, Swann JR, Wilson ID. doi.org/10.1016/j.jchromb.2020.122511
Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, SW7 2AZ, UK. Electronic address: m.letertre16@imperial.ac.uk.; Department of Surgery and Cancer, Imperial College London, SW7 2AZ, UK.; Australian National Phenome Centre, Health Futures Institute, Murdoch University, Harry Perkins South Building, Perth, WA 6150, Australia; Centre for Computational and Systems Medicine, Health Futures Institute, Murdoch University, Murdoch Perth, WA, 6150, Australia; National Phenome Centre, Dept of metabolism, Digestion and Reproduction, Imperial College London, W12 0NN.; Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, SW7 2AZ, UK; National Phenome Centre, Dept of metabolism, Digestion and Reproduction, Imperial College London, W12 0NN.; Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, SW7 2AZ, UK.; Australian National Phenome Centre, Health Futures Institute, Murdoch University, Harry Perkins South Building, Perth, WA 6150, Australia; Institute of Global Health Innovation, Imperial College London, Level 1, Faculty Building South Kensington Campus, London SW72NA, UK.; Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, SW7 2AZ, UK; School of Human Development and Health, Faculty of Medicine, University of Southampton, UK.; Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, SW7 2AZ, UK. Electronic address: i.wilson@imperial.ac.uk.
Narrowing of the dark valve: aortic stenosis in alkaptonuria. Indian J Thorac Cardiovasc Surg 37(3):320-322 (2021). Nagare K, Idhrees M, Ibrahim M, Jacob A, Velayudhan B. doi.org/10.1007/s12055-020-01059-z
Institute of Cardiac and Aortic Disorders, SRM Institutes for Medical Science (SIMS Hospitals), Chennai, 600 026 India
Alkaptonuria with asymmetric otologic involvement: a case report. Braz J Otorhinolaryngol S1808-8694(21):00067-7 (2021). Ozer Ozturk E, Aslan M, Marsak M, Sezer S. doi.org/10.1016/j.bjorl.2021.03.008
Inonu University, Faculty of Medicine, Department of Otorhinolaryngology Head and Neck Surgery, Malatya, Turkey. Electronic address: drozerebru@gmail.com.; Inonu University, Faculty of Medicine, Department of Otorhinolaryngology Head and Neck Surgery, Malatya, Turkey.; Inonu University, Faculty of Medicine, Department of Otorhinolaryngology Head and Neck Surgery, Malatya, Turkey; Inonu University, Faculty of Medicine, Department of Dermotology, Malatya, Turkey.; Inonu University, Faculty of Medicine, Department of Dermotology, Malatya, Turkey.
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy. Neurology 96(13):627-628 (2021). Pinto WBVR, Farias IB, Badia BML, Vieira de Albuquerque Filho JM, Machado RIL, de Souza PVS, Oliveira ASB. doi.org/10.1212/WNL.0000000000011663
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. wladimirbvrpinto@gmail.com.; From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty-seven patients with alkaptonuria. J Inherit Metab Dis 44(3):656-665 (2021). Ranganath LR, Gallagher JA, Davidson J, Vinjamuri S. doi.org/10.1002/jimd.12340
Department of Clinical Biochemistry & Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Department of Orthopaedic Surgery, Royal Liverpool and Broadgreen NHS Trust, Liverpool, UK.; Department of Nuclear Medicine, Division of Radiology, Royal Liverpool University Hospital, Liverpool, UK.
Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre. Osteoporos Int 32(5):927-938 (2021). Ranganath LR, Khedr M, Vinjamuri S, Gallagher JA. doi.org/10.1007/s00198-020-05671-y
Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK. lrang@liv.ac.uk.; IACD, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK. lrang@liv.ac.uk.; Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Nuclear Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; IACD, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK.
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients. J Inherit Metab Dis 44(3):666-676 (2021). Ranganath LR, Khedr M, Vinjamuri S, Gallagher JA. doi.org/10.1002/jimd.12363
Department of Clinical Biochemistry & Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Department of Nuclear Medicine, Division of Radiology, UK.
A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers. Mol Genet Metab Rep 27:100766 (2021). Ranganath LR, Milan AM, Bay-Jensen AC, Thudium CS. doi.org/10.1016/j.ymgmr.2021.100766
Departments of Clinical Biochemistry and Metabolic Medicine, Herlev, Denmark.; Nordic Bioscience, Herlev, Denmark
Total knee prosthesis in a patient diagnosed with ochronotic arthropathy. Rev Esp Cir Ortop Traumatol (Engl Ed) 65(1):69-72 (2021). Sabater M, Alías A, Segur JM. doi.org/10.1016/j.recot.2020.01.005
Servicio de Cirugía Ortopédica y Traumatología, Hospital Clínic de Barcelona, Barcelona, España. Electronic address: msabater@clinic.cat.; Servicio de Cirugía Ortopédica y Traumatología, Hospital Clínic de Barcelona, Barcelona, España.
Alkaptonuria in an adolescent boy. BMJ Case Rep 14(2):e240147 (2021). Sangeetha G, Chandran S, Ganesan S, Jayaraj J. doi.org/10.1136/bcr-2020-240147
Pediatrics, Sri Ramachandra University Medical College, Chennai, Tamilnadu, India sangeethaperungo@gmail.com.; General Medicine, ACS Medical College and Hospital, Chennai, Tamil Nadu, India.; MBBS, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
EU FP7 research funding for an orphan drug (Orfadin®) and vaccine (Hep C) development: a success and a failure?. J Pharm Policy Pract 14(1):37 (2021). Schmidt L, Sehic O, Wild C. doi.org/10.1186/s40545-021-00317-8
HTA Austria- Austrian Institute for Health Technology Assessment GmbH, Garnisongasse 7/20, 1090, Vienna, Austria.; HTA Austria- Austrian Institute for Health Technology Assessment GmbH, Garnisongasse 7/20, 1090, Vienna, Austria. claudia.wild@aihta.at.
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase. J Biomol Struct Dyn 39(5):1661-1671 (2021). Sen Gupta PS, Islam RNU, Banerjee S, Nayek A, Rana MK, Bandyopadhyay AK. doi.org/10.1080/07391102.2020.1736158
Department of Biotechnology, The University of Burdwan, Bardhaman, West Bengal, India.; Department of Chemical Sciences, Indian Institute of Science Education and Research (IISER) Berhampur, Ganjam, Odisha, India.; Department of Biological Sciences, Indian Statistical Institute, Kolkata, West Bengal, India.
Alkaptonuria. (2021). Sharabi AF, Goudar RB. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK560571/
University of Science and Technology of Yemen; Manipal Hospital Bangalore
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease. Brief Bioinform 4:bbaa434 (2021). Spiga O, Cicaloni V, Dimitri GM, Pettini F, Braconi D, Bernini A, Santucci A. doi.org/10.1093/bib/bbaa434
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, ITALY.; Toscana Life Sciences Foundation, Siena, ITALY.; Department of Computer Science, University of Cambridge, Cambridge, UK.; Department of Information Engineering and Mathematics, University of Siena, ITALY.; Department of Medical Biotechnology, University of Siena, ITALY.
Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria. Int J Mol Sci 22(3):1187 (2021). Spiga O, Cicaloni V, Visibelli A, Davoli A, Paparo MA, Orlandini M, Vecchi B, Santucci A. doi.org/10.3390/ijms22031187
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Toscana Life Sciences Foundation, 53100 Siena, Italy.; Hopenly s.r.l., 41058 Vignola, Italy
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey. Front Med (Lausanne) 8:652358 (2021). Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M. doi.org/10.3389/fmed.2021.652358
Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, United Kingdom.; Department of Metabolic Diseases and Diabetes, Krakow University Hospital, Krakow, Poland.; Department of Metabolic Diseases, Medical College, Jagiellonian University, Krakow, Poland.; Department of Child Neurology, Center for Rare Diseases Giessen (ZSEGI), Justus-Liebig University, Giessen, Germany.; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo, Milan, Italy.; Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris University, Clichy, France.; Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases, Lisbon, Portugal.; Pediatric Neurology Department, University Hospital Vall d’Hebron, Universitat Autónoma de Barcelona, Barcelona, Spain.; German-Speaking Self-Help Group for Alkaptonuria (DSAKU) e.V., Stuttgart, Germany.; International Gaucher Alliance, Dursley, United Kingdom.; Gaucher Association Denmark, Holbaek, Denmark.; Italian Association of Patients With Alkaptonuria (aimAKU), Siena, Italy.; Metabolic Unit, Interdisciplinary Centre for Metabolism: Endocrinology, Diabetes and Metabolism (UP) and Children’s Hospital, Charité University Hospital Berlin, Berlin, Germany.; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review. Gen Thorac Cardiovasc Surg 69(3):605-609 (2021). Taniguchi S, Shimada T, Miyanaga T. doi.org/10.1007/s11748-020-01492-2
Department of Cardiovascular Surgery, Sasebo Central Hospital, 15 Yamato-cho, Sasebo, Nagasaki, 857-1195, Japan. tshin0917@yahoo.co.jp.; Department of Cardiovascular Surgery, Sasebo Central Hospital, 15 Yamato-cho, Sasebo, Nagasaki, 857-1195, Japan.
[A male with black cartilage]. Ned Tijdschr Geneeskd 165:D5661 (2021). Visser D, Verhaar JAN.
Erasmus MC, afd. Orthopedie, Rotterdam.; Contact: David Visser (david_visser@outlook.com)
A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis. J Card Surg 36(2):758-760 (2021). Vo T, Edwards JRM. doi.org/10.1111/jocs.15272
Department of Cardiothoracic Surgery, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Inflammatory rheumatic diseases in patients with ochronotic arthropathy. Mod Rheumatol 31(5):1031-1037 (2021). Yuce Inel T, Kisa PT, Balci A, Uslu S, Arslan Z, Hismi BO, Ucar U, Arslan N, Onen F, Sari I. doi.org/10.1080/14397595.2020.1868121
Faculty of Medicine, Division of Rheumatology, Dokuz Eylul University, Izmir, Turkey.; Faculty of Medicine, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University, Izmir, Turkey.; Faculty of Medicine, Department of Radiology, Dokuz Eylul University, Izmir, Turkey.; Division of Pediatric Metabolism and Nutrition, Tepecik Education and Research Hospital, Izmir, Turkey.; Division of Rheumatology, Antalya Educatıon And Research Hospıtal, Antalya, Turkey
Presentation of 14 alkaptonuria patients from Turkey. J Pediatr Endocrinol Metab 33(2):289-294 (2020). Akbaba AI, Ozgül RK, Dursun A. doi.org/10.1515/jpem-2019-0163
Department of Pediatrics, Hacettepe University Faculty of Medicine, Gevher Nesibe Cd., Altındağ, 06230, Ankara, Turkey, Phone: +90 505 329 4554.; Department of Pediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara, Turkey.; Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria. Arthroplast Today 6(4):689-693 (2020). Al-Ajlouni JM, Alisi MS, Yasin MS, Khanfar A, Hamdan M, Halaweh AA, Al Hawamdeh H, Elessi K, Alsbou MS. doi.org/10.1016/j.artd.2020.07.037
Department of Special Surgery, Division of Orthopaedics, School of Medicine, The University of Jordan, Amman, Jordan.; Faculty of Medicine, The Islamic University of Gaza, Gaza, Palestine.; Department of Pharmacology, Faculty of Medicine, Mu’tah University, Karak, Jordan
Ochronotic arthropathy in alkaptonuria. Rheumatology (Oxford) 16:keaa660 (2020). Ali MA, Stratton R. doi.org/10.1093/rheumatology/keaa660
Royal Free Hospital, Royal Free London NHS Foundation Trust, London, UK.
Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion. Am J Case Rep 21:e924575 (2020). Alisi MS, Al-Saber MG, Abdulelah AA, Alqaisi A, Kanaan TMA, Hadidi F. doi.org/10.12659/AJCR.924575
Department of Special Surgery, Division of Orthopaedics, School of Medicine, The University of Jordan, Amman, Jordan.; School of Medicine, The University of Jordan, Amman, Jordan.; Department of Special Surgery, Division of Neurosurgery, School of Medicine, The University of Jordan, Amman, Jordan.
Cardiovascular ochronosis. Cardiovasc Pathol 48:107219 (2020). Ather N, Roberts WC. doi.org/10.1016/j.carpath.2020.107219
Baylor Scott & White Heart and Vascular Institute, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA.; Baylor Scott & White Heart and Vascular Institute, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA; Department of Pathology, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA; Department of Internal Medicine (Division of Cardiology), Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA. Electronic address: William.Roberts1@BSWHealth.org.
Assessment of Thyroid Function in Patients With Alkaptonuria. JAMA Netw Open 3(3):e201357 (2020). Avadhanula S, Introne WJ, Auh S, Soldin SJ, Stolze B, Regier D, Ciccone C, Hannah-Shmouni F, Filie AC, Burman KD, Klubo-Gwiezdzinska J. doi.org/10.1001/jamanetworkopen.2020.1357
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Department of Laboratory Medicine, National Institutes of Health, Bethesda, Maryland.; Children’s National Rare Disease Institute, Children’s National Medical Center, Washington, DC.; National Cancer Institute, National Institutes of Health, Bethesda, Maryland.; Endocrine Section, Medstar Washington Hospital Center, Washington, DC.
Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development. Comput Biol Chem 88:107356 (2020). Bernini A, Galderisi S, Spiga O, Amarabom CO, Santucci A. doi.org/10.1016/j.compbiolchem.2020.107356
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100, Siena, Italy. Electronic address: andrea.bernini@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100, Siena, Italy.
Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. Angew Chem Int Ed Engl 59(29):11937-11942 (2020). Chow WY, Norman BP, Roberts NB, Ranganath LR, Teutloff C, Bittl R, Duer MJ, Gallagher JA, Oschkinat H. doi.org/10.1002/anie.202000618
Leibniz-Forschungsinstitut für Molekulare Pharmakologie, im Forschungsverbund Berlin e.V. (FMP), Campus Berlin-Buch, Robert-Rössle-Str. 10, 13125, Berlin, Germany.; Department of Musculoskeletal Biology, Institute of Ageing & Chronic Disease, William Henry Duncan Building, University of Liverpool, Liverpool, L7 8TX, UK.; Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool and Broadgreen University Hospitals Trust, Liverpool, L7 8XP, UK.; Freie Universität Berlin, Fachbereich Physik, Berlin Joint EPR Lab, Arnimallee 14, 14195, Berlin, Germany.; Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge, CB2 1EW, UK.; Freie Universität Berlin, Fachbereich Biologie, Chemie und Pharmazie, Takustraße 3, 14195, Berlin, Germany.
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. Clin Rheumatol 39(9):2743-2749 (2020). Danda S, Mohan S, Devaraj P, Dutta AK, Nampoothiri S, Yesodharan D, Phadke SR, Jalan AB, Thangaraj K, Verma IC, Danda D, Jebaraj I. doi.org/10.1007/s10067-020-05020-8
Department of Medical Genetics, Christian Medical College and Hospital Vellore, OT Block 5th Floor, Vellore, Tamil Nadu, 632004, India. sdanda@cmcvellore.ac.in.; Department of Medical Genetics, Christian Medical College and Hospital Vellore, OT Block 5th Floor, Vellore, Tamil Nadu, 632004, India.; Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India.; Navi Mumbai Institute of Research in Mental and Neurological Handicap Navi Mumbai, Navi Mumbai, India.; Centre of Cellular and Molecular Biology, Hyderabad, Telangana, India.; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Department of Clinical Immunology & Rheumatology, Christian Medical College Vellore and Hospital, Vellore, Tamil Nadu, India.; Department of Orthopedics, Christian Medical College Vellore and Hospital, Vellore, Tamil Nadu, India.
Alkaptonuria – Many questions answered, further challenges beckon. Ann Clin Biochem 57(2):106-120 (2020). Davison AS, Hughes AT, Milan AM, Sireau N, Gallagher JA, Ranganath LR. doi.org/10.1177/0004563219879957
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool Health Partners, Liverpool, UK.; AKU Society, Cambridge, UK.
Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria – Is nitisinone the solution?. Mol Genet Metab Rep 23:100588 (2020). Davison AS, Luangrath E, Selvi E, Ranganath LR. doi.org/10.1016/j.ymgmr.2020.100588
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Department of Rheumatology, University of Siena, Italy
Family history of ochronotic arthropathy. Rheumatol Int (2020). Gómez-Lechón Quirós L, Hidalgo Calleja C, Acosta de la Vega ME, Compán Fernández O, Pastor Navarro S, Montilla Morales C. doi.org/10.1007/s00296-020-04640-2
Department of Rheumatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain. lgomezlechon@gmail.com.; Department of Rheumatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.
Suitability of nitisinone for alkaptonuria. Lancet Diabetes Endocrinol 8(9):732-733 (2020). Häberle J. doi.org/10.1016/S2213-8587(20)30222-9
Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, Zurich 8032, Switzerland. Electronic address: johannes.haeberle@kispi.uzh.ch.
Novel absorbance peak of gentisic acid following the oxidation reaction. PLoS One 15(4):e0232263 (2020). Hosokawa S, Shukuya K, Sogabe K, Ejima Y, Morinishi T, Hirakawa E, Ohsaki H, Shimosawa T, Tokuhara Y. doi.org/10.1371/journal.pone.0232263
Department of Medical Technology, Ehime Prefectural University of Health Sciences, Ehime, Japan.; Department of Medical Technology and Sciences, School of Health Sciences at Fukuoka, International University of Health and Welfare, Fukuoka, Japan.; Kaneka Techno Research Corporation, Hyogo, Japan.; Kaneka Corporation, Vinyls and Chlor-Alkali Solutions Vehicle, Osaka, Japan.; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Kagawa, Japan.; Department of Medical Biophysics, Kobe University Graduate School of Health Sciences, Kobe, Japan.; Clinical Laboratory Medicine, School of Medicine, International University of Health and Welfare, Chiba, Japan.
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. J Inherit Metab Dis 43(2):259-268 (2020). Hughes JH, Wilson PJM, Sutherland H, Judd S, Hughes AT, Milan AM, Jarvis JC, Bou-Gharios G, Ranganath LR, Gallagher JA. doi.org/10.1002/jimd.12172
Department of Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Department of Nutrition and Dietetics, Royal Liverpool University Hospital Trust, Liverpool, UK.; Liverpool Clinical Laboratories, Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool and Broadgreen University Hospitals Trust, Liverpool, UK.; School of Sport and Exercise Sciences, Faculty of Science, Liverpool John Moores University, Liverpool, UK.
Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy. Arthroplast Today 6(2):214-219 (2020). Ilyas I, Kashif S, Algashiri MF, Rabbani SA, Aldakhil SS, Al-Mohrej OA. doi.org/10.1016/j.artd.2020.01.012
Department of Orthopedic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma. JIMD Rep 53(1):45-60 (2020). Judd S, Khedr M, Milan AM, Davison AS, Hughes AT, Needham A, Psarelli EE, Shenkin A, Ranganath LR. doi.org/10.1002/jmd2.12084
Department of Nutrition and Dietetics Royal Liverpool University Hospital Liverpool UK.; Department of Clinical Biochemistry and Metabolic Medicine Liverpool Clinical Laboratories, Royal Liverpool University Hospital Liverpool UK.; Liverpool Cancer Trials Unit University of Liverpool, Block C, Waterhouse Building Liverpool UK.
Nitisinone causes acquired tyrosinosis in alkaptonuria. J Inherit Metab Dis 43(5):1014-1023 (2020). Khedr M, Cooper MS, Hughes AT, Milan AM, Davison AS, Norman BP, Sutherland H, Jarvis JC, Fitzgerald R, Markinson L, Psarelli EE, Ghane P, Deutz NEP, Gallagher JA, Ranganath LR.
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospitals Trust, Liverpool, UK.; Department of Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Department of Radiopharmacy, Royal Liverpool University Hospitals Trust, Liverpool, UK.; School of Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, UK.; NIHR Royal Liverpool and Broadgreen Clinical Research Facility, Liverpool, UK.; Cancer Research UK Liverpool Cancer Trials Unit, University of Liverpool, Liverpool, UK.; Department of Electrical and Computer Engineering, Texas A&M University, College Station, Texas, USA.; Department of Health and Kinesiology, Centre for Translational Research in Aging & Longevity, Texas A&M University, College Station, Texas, USA.
HPLC with electrochemical detection for determining homogentisic acid and its application to urine from rats fed tyrosine-enriched food. J Pharm Biomed Anal 186:113253 (2020). Kishi T, Kotani A, Umemura T, Hakamata H. doi.org/10.1016/j.jpba.2020.113253
Department of Analytical Chemistry, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Japan; Laboratory of Bioanalytical and Environmental Chemistry, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Japan.; Department of Analytical Chemistry, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Japan. Electronic address: kotani@toyaku.ac.jp.; Laboratory of Bioanalytical and Environmental Chemistry, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Japan.; Department of Analytical Chemistry, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Japan.
[Ochronosis of the Entire Aortic Root in Alkaptonuria;Report of a Case]. Kyobu Geka 73(12):1041-1044 (2020). Komatsu H, Kanamitsu H, Mohri M. http://www.pieronline.jp/openurl?issn=0021-5252&volume=73&issue=12&spage=1041
Department of Cardiovascular Surgery, Japanese Red Cross Society Himeji Hospital, Himeji, Japan.
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet J Rare Dis 15(1):341 (2020). Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Bond S, Brown C, Finglas A, Francisco R, Sestini S, Heard JM, Scarpa M; MetabERN collaboration group. doi.org/10.1186/s13023-020-01619-x
Center for Rare Diseases Giessen (ZSEGI), University Hospital Giessen, Giessen, Germany.; Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy.; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Krabbe UK, London, UK.; MSD Action Foundation, Dublin, Ireland.; Portuguese Association for CDG and Other Rare Metabolic Diseases (APCDG-DMR), Almada, Portugal.; Italian Association of Patients With Alkaptonuria (aimAKU), Siena, Italy.; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy. maurizio.scarpa@metab.ern-net.eu.
A Mistaken Identity-Alkaptonuria. J Clin Rheumatol 26(5):e147-e148 (2020). M B A, Jha S, Dwivedi P, Jain S. doi.org/10.1097/RHU.0000000000001044
Department of Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
UK-based dermatologist online survey on the current practice and training in the management of melasma and postinflammatory hyperpigmentation. Clin Exp Dermatol 45(4):483-484 (2020). Ma Y, Millette D, Nalluri R, Yoo J. doi.org/10.1111/ced.14197
Department of Dermatology, University Hospitals Birmingham, UK.; Department of Dermatology, Manchester University NHS Foundation Trust, Manchester, UK.
Hip and knee replacement in patients with ochronosis: Clinical experience and literature review. Orthop Rev (Pavia) 12(Suppl 1):8687 (2020). Meschini C, Cauteruccio M, Oliva MS, Sircana G, Vitiello R, Rovere G, Muratori F, Maccauro G, Ziranu A. doi.org/10.4081/or.2020.8687
Department of Orthopedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS; Università Cattolica del Sacro Cuore, Rome.; Department of Oncologic and Reconstructive Orthopedic Surgery, Azienda Ospedaliera Universitaria Careggi, Florence, Italy.
Small Data Challenges of Studying Rare Diseases. JAMA Netw Open 3(3):e201965 (2020). Mitani AA, Haneuse S. doi.org/10.1001/jamanetworkopen.2020.1965
Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.; Statistical Editor.
[Alkaptonuria detected during knee arthroplasty treatment]. Ugeskr Laeger 182(37):V04200271 (2020). Paaskesen CK, Hofbauer C. http://ugeskriftet.dk/videnskab/V04200271
Chpaa18@student.sdu.dk.
Alkaptonuria and multilevel intervertebral disc calcification. Joint Bone Spine 87(3):259 (2020). Pathak SK, Kumar N, Bagtharia P. doi.org/10.1016/j.jbspin.2020.01.004
Department of Orthopaedics, MM Deemed to be University, Ambala, Haryana, India. Electronic address: drsubodh08@gmail.com.; Department of Orthopaedics, MM Deemed to be University, Ambala, Haryana, India.
Exogenous Ochronosis (EO): Skin lightening cream causing rare caviar-like lesion with banana-like pigments; review of literature and histological comparison with endogenous counterpart. Autops Case Rep 10(4):e2020197 (2020). Qorbani A, Mubasher A, Sarantopoulos GP, Nelson S, Fung MA. doi.org/10.4322/acr.2020.197
University of California, San Francisco (UCSF), Department of Pathology and Laboratory Medicine, San Francisco, CA, USA.; Icahn School of Medicine at Mount Sinai Beth Israel, Department of Diagnostic Pathology & Laboratory Medicine, New York, NY, USA.; University of California, Los Angeles (UCLA), Department of Pathology and Laboratory Medicine, Los Angeles, CA, USA.; University of California, Davis (UC Davis), Department of Pathology and Laboratory Medicine, Sacramento, CA, USA.
Clinical and radiological outcomes of total joint arthroplasty in patients with ochronotic arthropathy. Eur J Orthop Surg Traumatol 30(5):923-929 (2020). Rajkumar N, Soundarrajan D, Dhanasekararaja P, Rajasekaran S. doi.org/10.1007/s00590-020-02651-0
Department of Orthopaedics, Ganga Hospital, 313, Mettupalayam Road, Coimbatore, 641 043, India. drrajkumarn@gmail.com.; Department of Orthopaedics, Ganga Hospital, 313, Mettupalayam Road, Coimbatore, 641 043, India.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. J Inherit Metab Dis 43(4):737-747 (2020). Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Shweihdi E, Norman BP, Hughes JH, Bygott H, Luangrath E, Fitzgerald R, Psarelli EE, van Kan C, Laan D, Olsson B, Rudebeck M, Mankowitz L, Sireau N, Arnoux JB, Le Quan Sang KH, Jarvis JC, Genovese F, Braconi D, Santucci A, Zatkova A, Glasova H, Stančík R, Imrich R, Rhodes NP, Gallagher JA. doi.org/10.1002/jimd.12181
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Clinical Pharmacology, Royal Liverpool University Hospital, Liverpool, UK.; Liverpool Cancer Trials Unit, University of Liverpool, Liverpool, UK.; PSR group B.V, Hoofddorp, Netherlands.; Swedish Orphan Biovitrum AB (publ), Stockholm, Sweden.; AKU Society, Cambridge, UK.; Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.; School of Sport and Exercise Science, Liverpool John Moores University, Liverpool, UK.; Nordic Bioscience, Herlev, Denmark.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; National Institute of Rheumatic Diseases, Piešťany, Slovakia.
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre. JIMD Rep 55(1):75-87 (2020). Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Wilson PJ, Dillon JP, West E, Gallagher JA. doi.org/10.1002/jmd2.12137
Department of Clinical Biochemistry and Metabolic Medicine Royal Liverpool University Hospital Liverpool UK.; Institute of Ageing and Chronic Disease, Musculoskeletal Biology I, William Henry Duncan Building Liverpool UK.; Department of ENT Broadgreen Hospital Liverpool UK.
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. Lancet Diabetes Endocrinol 8(9):762-772 (2020). Ranganath LR, Psarelli EE, Arnoux JB, Braconi D, Briggs M, Bröijersén A, Loftus N, Bygott H, Cox TF, Davison AS, Dillon JP, Fisher M, FitzGerald R, Genovese F, Glasova H, Hall AK, Hughes AT, Hughes JH, Imrich R, Jarvis JC, Khedr M, Laan D, Le Quan Sang KH, Luangrath E, Lukáčová O, Milan AM, Mistry A, Mlynáriková V, Norman BP, Olsson B, Rhodes NP, Rovenský J, Rudebeck M, Santucci A, Shweihdi E, Scott C, Sedláková J, Sireau N, Stančík R, Szamosi J, Taylor S, van Kan C, Vinjamuri S, Vrtíková E, Webb C, West E, Záňová E, Zatkova A, Gallagher JA. doi.org/10.1016/S2213-8587(20)30228-X
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Electronic address: lrang@liv.ac.uk.; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool, UK.; Hôpital Necker-Enfants Malades, Paris, France.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Department of Ophthalmology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Swedish Orphan Biovitrum, Stockholm, Sweden.; Department of Physiotherapy, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Department of Cardiology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Department of Clinical Pharmacology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Nordic Bioscience, Herlev, Denmark.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Institute of Pharmacology and Clinical Pharmacology, Slovak Medical University, Bratislava, Slovakia.; Cudos, Hoofddorp, Netherlands.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; National Institute of Rheumatic Diseases, Piešt’any, Slovakia.; School of Sport and Exercise Science, Liverpool John Moores University, Liverpool, UK.; PSR Group, Hoofddorp, Netherlands.; National Institute of Rheumatic Diseases, Piešt’any, Slovakia.; Department of Radiology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; AKU Society, Cambridge, UK.; Department of Nuclear Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Department of Ear, Nose and Throat, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Department of Dermatology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Aortic Valve Replacement In Alkaptonuric Ochronosis. Rev Port Cir Cardiotorac Vasc 27(2):121-123 (2020). Rey EL, Monzonís AM, Bajula A, Peñaranda JMS, Fernández AL.
Service of Cardiac Surgery. University Hospital. Department of Surgery and Medico-Surgical Specialities. School of Medicine. University of Santiago de Compostela, Spain.; Service of Cardiology. University Hospital, Santiago de Compostela, Spain.; Service of Anesthesiology. University Hospital, Santiago de Compostela, Spain.; Service of Pathology. University Hospital Santiago de Compostela, Spain.; Service of Cardiac Surgery. University Hospital. Department of Surgery and Medico-Surgical Specialities School of Medicine. University of Santiago de Compostela, Spain.
Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain. Fed Pract 37(1):48-52 (2020). Reyes A, Hashemi L. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010342/
is an Internal Medicine Resident at New York University Langone Medical Center, New York City. is a Primary Care Attending Physician and Ambulatory Care Clerkship Director at the VA Greater Los Angeles Healthcare System and Assistant Clinical Professor at the David Geffen School of Medicine at University of California Los Angeles. At the time the article was written Dr. Reyes was a Medical Student at the David Geffen School of Medicine.
AKUImg: A database of cartilage images of Alkaptonuria patients. Comput Biol Med 122:103863 (2020). Rossi A, Giacomini G, Cicaloni V, Galderisi S, Milella MS, Bernini A, Millucci L, Spiga O, Bianchini M, Santucci A. doi.org/10.1016/j.compbiomed.2020.103863
University of Florence, Department of Information Engineering, Via di Santa Marta, Florence, Italy; University of Siena, Department of Information Engineering and Mathematics, Via Roma 56, Siena, Italy. Electronic address: alberto.rossi@unifi.it.; University of Siena, Department of Biotechnology, Chemistry and Pharmacy, Via Aldo Moro 2, Siena, Italy; University of Siena, Department of Information Engineering and Mathematics, Via Roma 56, Siena, Italy.; University of Siena, Department of Biotechnology, Chemistry and Pharmacy, Via Aldo Moro 2, Siena, Italy; Toscana Life Sciences Foundation, Via Fiorentina 1, Siena, Italy.; University of Siena, Department of Biotechnology, Chemistry and Pharmacy, Via Aldo Moro 2, Siena, Italy.; University of Siena, Department of Information Engineering and Mathematics, Via Roma 56, Siena, Italy.
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care. JIMD Rep 53(1):71-79 (2020). Rudebeck M, Scott C, Sireau N, Ranganath L. doi.org/10.1002/jmd2.12101
Swedish Orphan Biovitrum Stockholm Sweden.; AKU Society Cambridge UK.; Department of Clinical Biochemistry & Metabolic Medicine Royal Liverpool University Hospital Liverpool UK.
Drug repositioning for rare diseases: Knowledge-based success stories. Therapie 75(2):161-167 (2020). Scherman D, Fetro C. doi.org/10.1016/j.therap.2020.02.007
French foundation for rare diseases, 75014 Paris, France; Chemical and biological technologies for health unit (UTCBS), CNRS UMR8258, 75006 Paris, France; UTCBS, Inserm U1267, 75006 Paris, France; Faculté de pharmacie, université Paris Descartes, université de Paris, 75006 Paris, France. Electronic address: daniel.scherman@fondation-maladiesrares.com.; French foundation for rare diseases, 75014 Paris, France.
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway. J Cell Physiol 235(10):6808-6816 (2020). Schiavone ML, Millucci L, Bernardini G, Giustarini D, Rossi R, Marzocchi B, Santucci A. doi.org/10.1002/jcp.29575
Dipartimento di Eccellenza in Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria. Arch Biochem Biophys 690:108416 (2020). Schiavone ML, Pecorelli A, Woodby B, Ferrara F, Pambianchi E, Santucci A, Valacchi G. doi.org/10.1016/j.abb.2020.108416
Plants for Human Health Institute, Dept. of Animal Science, NC Research Campus, NC State University, Kannapolis, 28081, NC, USA; Dept. of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Plants for Human Health Institute, Dept. of Animal Science, NC Research Campus, NC State University, Kannapolis, 28081, NC, USA.; Plants for Human Health Institute, Dept. of Animal Science, NC Research Campus, NC State University, Kannapolis, 28081, NC, USA; Dept. of Biomedical and Specialist Surgical Sciences, University of Ferrara, 44121, Ferrara, Italy.; Dept. of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Plants for Human Health Institute, Dept. of Animal Science, NC Research Campus, NC State University, Kannapolis, 28081, NC, USA; Dept. of Biomedical and Specialist Surgical Sciences, University of Ferrara, 44121, Ferrara, Italy; Dept. of Food and Nutrition, Kyung Hee University, 02447, Seoul, South Korea. Electronic address: gvalacc@ncsu.edu.
Arthroscopic soft-tissue interposition arthroplasty of the glenohumeral joint for ochronotic arthropathy: A case report. J Orthop Sci 25(4):734-738 (2020). Schouten TTJ, Oldenburg RA, van Kampen PM, Huijsmans PE. doi.org/10.1016/j.jos.2017.12.008
Haga Hospital, The Hague, The Netherlands. Electronic address: tundischouten@gmail.com.; Erasmus Medical Centre, Rotterdam, The Netherlands.; Bergman Clinics, Rijswijk, The Netherlands.
Mystery of black urine: alkaptonuria. Kidney Int 97(6):1303 (2020). Sethi SK, Raina R, Chakraborty R, Kher V. doi.org/10.1016/j.kint.2019.12.008
Pediatric Nephrology, Kidney and Urology Institute, Medanta, The Medicity Hospital, Gurgaon, Haryana, India. Electronic address: sidsdoc@gmail.com.; Department of Nephrology, Akron General Medical Center, Akron, Ohio, USA; Department of Nephrology, Akron Children’s Hospital, Akron, Ohio, USA.; Department of Nephrology, Akron General Medical Center, Akron, Ohio, USA.; Pediatric Nephrology, Kidney and Urology Institute, Medanta, The Medicity Hospital, Gurgaon, Haryana, India.
Alkaptonuric ochronosis of the carotid artery. SAGE Open Med Case Rep 8:2050313X20915411 (2020). Shah A, Son A, Salehi P. doi.org/10.1177/2050313X20915411
Department of Surgery, Tufts Medical Center, Boston, MA, USA.
Intraoperative Diagnosis of a Rare Case of Arthropathy – A Case Report and Review of Literature. J Orthop Case Rep 10(8):58-62 (2020). Shaikh A, Desai M, Kantanavar R, Shah S. doi.org/10.13107/jocr.2020.v10.i08.1860
Department of Orthopaedics, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai. Maharashtra, India
Blue palms and nails: A clue to diagnosis of alkaptonuria. Indian J Dermatol Venereol Leprol 86(6):753 (2020). Sirka CS, Rout AN, Naik S, Sahu K. doi.org/10.4103/ijdvl.IJDVL_275_19
Department of Dermatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.; Department of Radiodiagnosis, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease. Orphanet J Rare Dis 15(1):46 (2020). Spiga O, Cicaloni V, Fiorini C, Trezza A, Visibelli A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Braconi D, Prischi F, Santucci A. doi.org/10.1186/s13023-020-1305-0
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Via A., 53100, Siena, Italy. ottavia.spiga@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Via A., 53100, Siena, Italy.; Toscana Life Sciences Foundation, Siena, Italy.; Energy way, Modena, Italy.; Department of Information Engineering and Mathematics, University of Siena, Siena, Italy.; UOC Patologia Clinica, Azienda Ospedaliera Senese, Siena, Italy.; School of Life Sciences, University of Essex, Colchester, CO4 3SQ, UK.
Urological Aspects in Patients with Alkaptonuria: A Case-Control Study. Am J Mens Health 14(5):1557988320969310 (2020). Suoub M, Alsbou M, Sawaqed F. doi.org/10.1177/1557988320969310
Department of Special Surgery, Faculty of Medicine, Mutah University, Karak, Jordan.; Alkaptonuria Research Office, Faculty of Medicine, Mutah University, Karak, Jordan
Aortic distensibility in alkaptonuria. Mol Genet Metab 130(4):289-296 (2020). Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O’Brien KJ, Gahl WA, Introne WJ, Chen MY. doi.org/10.1016/j.ymgme.2020.05.006
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America.; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America; Veterans Affairs Medical Center, Long Beach, CA, United States of America.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: marcus.chen@nih.gov.
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. JIMD Rep 58(1):52-60 (2020). Wilson PJM, Ranganath LR, Bou-Gharios G, Gallagher JA, Hughes JH. doi.org/10.1002/jmd2.12184
Department of Musculoskeletal & Ageing Science, Institute of Life Course and Medical Science University of Liverpool Liverpool United Kingdom.; Liverpool Clinical Laboratories, Department of Clinical Biochemistry and Metabolic Medicine Royal Liverpool University Hospital Liverpool United Kingdom
Alkaptonuria: Current Perspectives. Appl Clin Genet 13:37-47 (2020). Zatkova A, Ranganath L, Kadasi L. doi.org/10.2147/TACG.S186773
Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia.; National Alkaptonuria Centre, Royal Liverpool University Hospital, Liverpool, UK.; Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Bratislava, Slovakia.
Ochronosis Involvement and Extensity With 18F-FDG PET/CT. Clin Nucl Med 44(5):e360-e361 (2019). Acar E, Bekiş R, Zengin B, Birlik M. doi.org/10.1097/RLU.0000000000002518
Department of Nuclear Medicine, Dokuz Eylul University, School of Medicine.; Department of Internal Medicine, and Division of Rheumatology, Dokuz Eylul University, School of Medicine, Izmir, Turkey
A father’s fight to help his sons – and fix clinical trials. Nature 565(7738):148-151 (2019). Adam D. doi.org/10.1038/d41586-019-00035-x
Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. J Clin Med Res 11(5):337-344 (2019). Albatayneh EM, Al-Sbou MS, Mahgoub SS, Mwafi NR, Alnawaiseh NA. doi.org/10.14740/jocmr3801
Department of Microbiology and Immunology, Faculty of Medicine, Mutah University, Mutah, Jordan.; Department of Pharmacology, Alkaptonuria Research Office, Faculty of Medicine, Mutah University, Mutah, Jordan.; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Minia University, Al-Minia, Egypt.; Department of Biochemistry and Molecular Biology, Alkaptonuria Research Office, Faculty of Medicine, Mutah University, Mutah, Jordan.; Department of Public Health, Faculty of Medicine, Mutah University, Mutah, Jordan
Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy. Eur Spine J 28(10):2283-2289 (2019). Alkasem W, Boissiere L, Obeid I, Bourghli A.
Neurosurgery and Spinal Department, Zheen International Hospital, Erbīl, Iraq.; Orthopedic Spinal Surgery Unit 1, Bordeaux Pellegrin Hospital, Bordeaux, France.; Orthopedic and Spinal Surgery Department, Kingdom Hospital, P. O. Box 84400, Riyadh, 11671, Saudi Arabia. anouar.bourghli@gmail.com
Endogenous ochronosis: a dermoscopic view. Int J Dermatol 58(9):e175-e178 (2019). Ankad BS, Reshme AS, Nikam BP. doi.org/10.1111/ijd.14486
Department of Dermatology, S. Nijalingappa Medical College, Bagalkot, Karnataka, India.; Krishna Institute of Medical Sciences, Karad, Maharashtra, India
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. Eur J Hum Genet 27(6):888-902 (2019). Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. doi.org/10.1038/s41431-019-0354-0
Department of Biochemistry and Molecular Biology, Bio21 Institute Molecular Science & Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Department of Biochemistry, Cambridge University, Cambridge, UK.; Instituto René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, Minas Gerais, Brazil.; Department of Biotechnology, Chemistry and Pharmacy, Department of Excellence 2018-22, University of Siena, Siena, Italy.; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Science, Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Clinical Development, Swedish Orphan Biovitrum AB, Stockholm, Sweden.; Toscana life Sciences (TLS), Siena, Italy.; Department of Clinical Biochemistry and Metabolism, Royal Liverpool University Hospital, Liverpool, UK.; Centro Interdipartimentale per lo Studio Biochimico delle Patologie Osteoarticolari, Università di Siena, Siena, Italy.; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. andrea.zatkova@savba.sk
Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria. Skinmed 17(3):161-170 (2019). Atmatzidis DH, Hoegler K, Weiss A, Lambert WC, Schwartz RA.
Department of Dermatology, Rutgers University – New Jersey Medical School, Newark, NJ.; Department of Pathology, Rutgers University – New Jersey Medical School, Newark, NJ.; Department of Dermatology, Rutgers University – New Jersey Medical School, Newark, NJ; lamberwc@njms.rutgers.edu.; Rutgers University School of Public Affairs and Administration, Newark, NJ
Alkaptonuria: Spontaneous Achilles tendon rupture: Case report. Eklem Hastalik Cerrahisi 30(3):325-328 (2019). Baca E, Kural A, Ziroglu N, Kural C. doi.org/10.5606/ehc.2019.66155
Department of Orthopedics and Traumatology, Bakırköy Dr. Sadi Konuk Training and Research Hospital, 34147 Bakırköy, İstanbul, Turkey
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. J Cell Physiol 234(5):6696-6708 (2019). Bernardini G, Leone G, Millucci L, Consumi M, Braconi D, Spiga O, Galderisi S, Marzocchi B, Viti C, Giorgetti G, Lupetti P, Magnani A, Santucci A. doi.org/10.1002/jcp.27416
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.; UOC Patologia Clinica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Dipartimento di Scienze Fisiche, della Terra e dell’Ambiente, Università degli Studi di Siena, Siena, Italy.; Dipartimento di Scienze della Vita, Università degli Studi di Siena, Siena, Italy
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases. World J Pediatr 15(1):4-11 (2019). Brunetti G, D’Amato G, Chiarito M, Tullo A, Colaianni G, Colucci S, Grano M, Faienza MF. doi.org/10.1007/s12519-018-0198-7
Section of Human Anatomy and Histology, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University “A. Moro” of Bari, Piazza G. Cesare 11, 70124, Bari, Italy.; Neonatal Intensive Care Unit, Di Venere Hospital, Bari, Italy.; Pediatric Section, Department of Biomedical Sciences and Human Oncology, University “A. Moro” of Bari, Piazza G. Cesare 11, 70124, Bari, Italy.; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies-IBIOM, CNR, 70126, Bari, Italy.; Department of Emergency and Organ Transplantation, University “A. Moro” of Bari, Bari, Italy.; Pediatric Section, Department of Biomedical Sciences and Human Oncology, University “A. Moro” of Bari, Piazza G. Cesare 11, 70124, Bari, Italy. mariafelicia.faienza@uniba.it
A Man in His Early 70s With Aortic Stenosis and Discoloration of the Aortic Valve. JAMA Cardiol 4(11):1172 (2019). Butt K, Accola K. doi.org/10.1001/jamacardio.2019.3301
AdventHealth Orlando, Orlando, Florida
Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease. FASEB J 33(11):12696-12703 (2019). Cicaloni V, Spiga O, Dimitri GM, Maiocchi R, Millucci L, Giustarini D, Bernardini G, Bernini A, Marzocchi B, Braconi D, Santucci A. doi.org/10.1096/fj.201901529R
Department of Biotechnology, Chemistry, and Pharmacy, University of Siena, Siena, Italy.; Toscana Life Sciences Foundation, Siena, Italy.; Department of Computer Science, University of Cambridge, Cambridge, United Kingdom.; Unità Operativa Complessa (UOC) Patologia Clinica, Azienda Ospedaliera Senese, Siena, Italy
Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone. Clin Biochem 71:24-30 (2019). Curtis SL, Norman BP, Milan AM, Gallagher JA, Olsson B, Ranganath LR, Roberts NB. doi.org/Clin Biochem
Department of Clinical Biochemistry, Royal Liverpool and Broadgreen University Hospitals, Prescot Street, Liverpool L7 8XP, UK.; Institute of Ageing & Chronic Disease, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool L7 8TX, UK.; Sobi, SE-112 76 Stockholm, Sweden.; Department of Clinical Biochemistry, Royal Liverpool and Broadgreen University Hospitals, Prescot Street, Liverpool L7 8XP, UK. Electronic address: n.b.roberts@liverpool.ac.uk
Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS. JIMD Rep 48(1):67-74 (2019). Davison AS, Norman BP, Ross GA, Hughes AT, Khedr M, Milan AM, Gallagher JA, Ranganath LR. doi.org/10.1002/jmd2.12042
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories Royal Liverpool University Hospitals Trust Liverpool UK.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease University of Liverpool, Liverpool Health Partners Liverpool UK.; Agilent Technologies Cheadle UK
Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging. Metabolomics 15(5):68 (2019). Davison AS, Strittmatter N, Sutherland H, Hughes AT, Hughes J, Bou-Gharios G, Milan AM, Goodwin RJA, Ranganath LR, Gallagher JA. doi.org/10.1007/s11306-019-1531-4
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, L7 8XP, UK. andrew.davison@rlbuht.nhs.uk.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool Health Partners, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Pathology, Drug Safety and Metabolism, IMED Biotech Unit, AstraZeneca, Cambridge, UK.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool Health Partners, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, L7 8XP, UK
Correction to: Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging. Metabolomics 15(5):81 (2019). Davison AS, Strittmatter N, Sutherland H, Hughes AT, Hughes J, Bou-Gharios G, Milan AM, Goodwin RJA, Ranganath LR, Gallagher JA. doi.org/10.1007/s11306-019-1540-3
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, L7 8XP, UK. andrew.davison@rlbuht.nhs.uk.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool Health Partners, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Pathology, Drug Safety and Metabolism, IMED Biotech Unit, AstraZeneca, Cambridge, UK.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool Health Partners, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, L7 8XP, UK
“As Black as Ink”: A Case of Alkaptonuria-Associated Myelopathy and a Review of the Literature. Spine (Phila Pa 1976) 44(1):E53-E59 (2019). Donaldson CJ, Mitchell SL, Riley LH 3rd, Kebaish KM. doi.org/10.1097/BRS.0000000000002755
Faculty of Life Sciences and Medicine, King’s College London, London, UK.; Department of Orthopedic Surgery, The Johns Hopkins University, Baltimore, MD
Short-term results of total shoulder arthroplasty for ochronotic arthritis. J Surg Case Rep 2019(7):rjz219 (2019). Dorleijn D, van Noort A, Janus G. doi.org/10.1093/jscr/rjz219
Isala, Dokter van Heesweg 2, 8025 AB Zwolle, The Netherlands.; Spaarne Gasthuis, Spaarnepoort 1, 2134 TM Hoofddorp, The Netherlands
Alkaptonuria-an atypical case: multi-modality imaging review. Skeletal Radiol 48(5):819-822 (2019). Ethiraj D, Indiran V, Kanakaraj K, Ramachandra Prasad T, Prabakaran M. doi.org/10.1007/s00256-018-3104-4
Department of Radiology, Sree Balaji Medical College and Hospital, 7, Works Road, Chromepet, Chennai, Tamil Nadu, 600044, India.; Department of Radiology, Sree Balaji Medical College and Hospital, 7, Works Road, Chromepet, Chennai, Tamil Nadu, 600044, India. ivraman31@gmail.com
Collagenous and elastotic marginal plaques of the hand: A potential clue to the diagnosis of alkaptonuria. J Cutan Pathol 46(1):74-79 (2019). Good AJ, Snodgrass AL, De Benedetto A, Motaparthi K. doi.org/10.1111/cup.13368
Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida
Ocular and systemic manifestations of alkaptonuria. QJM 112(5):369 (2019). Gupta PC, Balamurugan R, Ram J. doi.org/10.1093/qjmed/hcy268
Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
A proposal for the term ochronotic keratoderma. J Cutan Pathol 46(8):623 (2019). Heymann WR. doi.org/10.1111/cup.13464
Cooper Medical School of Rowan University, Marlton, New Jersey
Corneal and Scleral Problems Caused by Skin-Lightening Creams. Cornea 38(10):1332-1335 (2019). Hollick EJ, Igwe C, Papamichael E, Gore DM, Angunawela RI, Philippidou M, Jones SM. doi.org/10.1097/ICO.0000000000002027
Department of Ophthalmology, King’s College Hospital NHS Foundation Trust, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
Ochronosis Presenting as Methemoglobinemia. J Forensic Sci 64(3):913-916 (2019). Hugar SB, Shulman J, Yanta J, Nine J. doi.org/10.1111/1556-4029.13907
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Department of Emergency Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Hum Mol Genet 28(23):3928-3939 (2019). Hughes JH, Liu K, Plagge A, Wilson PJM, Sutherland H, Norman BP, Hughes AT, Keenan CM, Milan AM, Sakai T, Ranganath LR, Gallagher JA, Bou-Gharios G. doi.org/10.1093/hmg/ddz234
Department of Orthopedics Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China. Medicine (Baltimore) 98(34):e16837 (2019). Jiang L, Cao L, Fang J, Yu X, Dai X, Miao X. doi.org/10.1097/MD.0000000000016837
Department of Orthopedics Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Concentric lamellae – novel microanatomical structures in the articular calcified cartilage of mice. Sci Rep 9(1):11188 (2019). Keenan CM, Beckett AJ, Sutherland H, Ranganath LR, Jarvis JC, Prior IA, Gallagher JA. doi.org/10.1038/s41598-019-47545-2
Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK. ckeenan@liv.ac.uk.; Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Nuffield Building, Crown Street, Liverpool, L69 3BX, UK.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK.; School of Sport and Exercise Sciences, Liverpool John Moores University, Tom Reilly Building, Byrom Street, Liverpool, L3 3AF, UK.; Department of Clinical Biochemistry and Metabolism, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK. jag1@liv.ac.uk.
Dermpath & Clinic: Exogenous ochronosis. Eur J Dermatol 29(2):239-240 (2019). Le Borgne De Lavillandre J, Lesort C, Martin C, Villani AP, Kanitakis J. doi.org/10.1684/ejd.2019.3563
Hospices Civils de Lyon, Dermatology Department, Edouard Herriot Hospital, Claude Bernard Lyon University, Lyon, France.
Melanonychia striata: clarifying behind the Black Curtain. A review on clinical evaluation and management of the 21st century. Int J Dermatol 58(11):1239-1245 (2019). Leung AKC, Lam JM, Leong KF, Sergi CM. doi.org/10.1111/ijd.14464
University of Calgary, Alberta Children’s Hospital, Calgary, Alberta, Canada.; Department of Pediatrics, Department of Dermatology and Skin Sciences, University of British Columbia, Vancouver, British Columbia, Canada.; Pediatric Institute, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.; Departments of Pediatrics, Laboratory Medicine, and Pathology, The University of Alberta, Edmonton, Alberta, Canada.
[Black knee-ochronotic alterations in alkaptonuria]. Unfallchirurg 122(11):905-910 (2019). Maurer E, Maurer M, Stöckle U, Flesch I, Ateschrang A, Kraus TM. doi.org/10.1007/s00113-019-0700-2
Unfall- und Wiederherstellungschirurgie BG Unfallklinik Tübingen, Eberhard Karls Universität Tübingen, Schnarrenbergstraße 95, 72076, Tübingen, Deutschland. emaurer@bgu-tuebingen.de.; Abteilung für Diagnostische und Interventionelle Radiologie, Eberhard Karls Universität Tübingen, Tübingen, Deutschland.; Zentrum für Muskuloskeletale Chirurgie, Charité Universitätsklinik Berlin, Berlin, Deutschland.; Unfall- und Wiederherstellungschirurgie BG Unfallklinik Tübingen, Eberhard Karls Universität Tübingen, Schnarrenbergstraße 95, 72076, Tübingen, Deutschland.
Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria. Sci Rep 9(1):10024 (2019). Milan AM, Hughes AT, Davison AS, Khedr M, Rovensky J, Psarelli EE, Cox TF, Rhodes NP, Gallagher JA, Ranganath LR. doi.org/10.1038/s41598-019-46033-x
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK. anna.milan@rlbuht.nhs.uk.; Department of Musculoskeletal Biology, University of Liverpool, L7 8TX, Liverpool, UK. anna.milan@rlbuht.nhs.uk.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Musculoskeletal Biology, University of Liverpool, L7 8TX, Liverpool, UK.; National Institute of Rheumatic Diseases, Piestany, Slovakia.; Liverpool Cancer Trials Unit, University of Liverpool, Block C, Waterhouse Building, Liverpool, L69 3GL, UK.
Hydrophobicity-oriented drug design (HODD) of new human 4-hydroxyphenylpyruvate dioxygenase inhibitors. Eur J Med Chem 166:22-31 (2019). Ndikuryayo F, Kang WM, Wu FX, Yang WC, Yang GF. doi.org/10.1016/j.ejmech.2019.01.032
Key Laboratory of Pesticide & Chemical Biology of Ministry of Education, International Joint Research Center for Intelligent Biosensor Technology and Health, Chemical Biology Center, College of Chemistry, Central China Normal University, Wuhan, 430079, PR China.; Key Laboratory of Pesticide & Chemical Biology of Ministry of Education, International Joint Research Center for Intelligent Biosensor Technology and Health, Chemical Biology Center, College of Chemistry, Central China Normal University, Wuhan, 430079, PR China. Electronic address: tomyang@mail.ccnu.edu.cn.; Key Laboratory of Pesticide & Chemical Biology of Ministry of Education, International Joint Research Center for Intelligent Biosensor Technology and Health, Chemical Biology Center, College of Chemistry, Central China Normal University, Wuhan, 430079, PR China; Collaborative Innovation Center of Chemical Science and Engineering, Tianjin, 30071, PR China. Electronic address: gfyang@mail.ccnu.edu.cn.
Recognition of Alkaptonuria During Mohs Micrographic Surgery. Dermatol Surg 45(9):1194-1195 (2019). Nemeth K, Tolkachjov SN. doi.org/10.1097/DSS.0000000000001671
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin Surgical Dermatology Group, Birmingham, Alabama.
A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors. Sci Rep 9(1):14145 (2019). Neuckermans J, Mertens A, De Win D, Schwaneberg U, De Kock J. doi.org/10.1038/s41598-019-50533-1
Department of In Vitro Toxicology and Dermato-cosmetology, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Laarbeeklaan 103, B-1090, Brussels, Belgium. jessie.neuckermans@vub.be.; Lehrstuhl für Biotechnologie, RWTH Aachen University, Worringerweg 3, 52074, Aachen, Germany.; Department of In Vitro Toxicology and Dermato-cosmetology, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Laarbeeklaan 103, B-1090, Brussels, Belgium.; Department of In Vitro Toxicology and Dermato-cosmetology, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Laarbeeklaan 103, B-1090, Brussels, Belgium. joery.de.kock@vub.be.
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria. Clin Chem 65(4):530-539 (2019). Norman BP, Davison AS, Ross GA, Milan AM, Hughes AT, Sutherland H, Jarvis JC, Roberts NB, Gallagher JA, Ranganath LR. doi.org/10.1373/clinchem.2018.295345
Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK; bnorman@liverpool.ac.uk.; Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.; Agilent Technologies UK Ltd., Cheadle, UK.; School of Exercise Science, Liverpool John Moores University, Liverpool, UK.
Glaucoma With Alkaptonuria as a Result of Pigment Accumulation. J Glaucoma 28(7):e112-e114 (2019). Okutucu M, Aslan MG, Findik H, Yavuz G. doi.org/10.1097/IJG.0000000000001208
Recep Tayyip Erdoğan Üniversitesi Zihni Derin Yerleşkesi, Fener Mahallesi, Merkez, Rize, Turkey.
Transcatheter Aortic Valve Replacement for Alkaptonuria-Associated Aortic Stenosis. Ann Thorac Surg 108(6):e377-e379 (2019). Olive JK, Alnajar A, Gnanashanmugam S, Lamelas J. doi.org/10.1016/j.athoracsur.2019.04.053
Division of Cardiothoracic Surgery, Department of Surgery, Baylor College of Medicine, Houston, Texas.; Division of Cardiothoracic Surgery, Department of Surgery, Baylor College of Medicine, Houston, Texas; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, Texas.; Division of Cardiothoracic Surgery, Department of Surgery, Baylor College of Medicine, Houston, Texas; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, Texas. Electronic address: jlamelas@miami.edu.
[Surgery in the dark – a case of Cardiac Ochronosis]. Rev Port Cir Cardiotorac Vasc 26(3):225-227 (2019). Pissarra D, Lopez E, Melo DP, Magalhães J, Pinho P.
Serviço de Cirurgia Cardiotorácica, Centro Hospitalar de São João, Porto, Portugal.; Serviço de Anatomia Patológica, Centro Hospitalar de São João, Porto, Portugal.
The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. Ann Thorac Surg 108(4):e257-e259 (2019). Planinc M, Unic D, Baric D, Blazekovic R, Sribar A, Sutlic Z, Rudez I. doi.org/10.1016/j.athoracsur.2019.02.042
Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia. Electronic address: mislav.planinc@gmail.com.; Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia.; Clinical Department of Anesthesiology, Reanimatology, and Intensive Care Medicine, University Hospital Dubrava, Zagreb, Croatia.
Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. J Inherit Metab Dis 42(5):776-792 (2019). Ranganath LR, Norman BP, Gallagher JA. doi.org/10.1002/jimd.12152
Royal Liverpool University Hospital, Liverpool, UK.; Musculoskeletal Biology I, Institute of Ageing & Chronic Disease, William Henry Duncan Building, University of Liverpool, Liverpool, UK.
Endogenous ochronosis: when clinical suspicion prevails over histopathology. Dermatol Online J 25(4):8 (2019). Sánchez-Martínez EM, García-Briz MI, Moneva-Léniz LM, Gegúndez-Hernández H, Pose-Lapausa P, Mateu-Puchades A. doi.org/10.5070/D3254043577
Servicio de Dermatología y Veneorología, Hospital Universitario Doctor Peset, Valencia. Eva.sanchez.m.92@gmail.com.
Efficacy of low dose nitisinone in the management of alkaptonuria. Mol Genet Metab 127(3):184-190 (2019). Sloboda N, Wiedemann A, Merten M, Alqahtani A, Jeannesson E, Blum A, Henn-Ménétré S, Guéant JL, Renard E, Feillet F. doi.org/10.1016/j.ymgme.2019.06.006
Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children’s Hospital, CHU Brabois, Vandoeuvre les Nancy, France.; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children’s Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France.; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France; Biochemistry and Molecular Biology Laboratory (Nutrition, Metabolism), CHRU de Nancy, Nancy, France.; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children’s Hospital, CHU Brabois, Vandoeuvre les Nancy, France; Radiology Unit Guilloz, University Hospital, Hôpital Central, Nancy, France.; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children’s Hospital, CHU Brabois, Vandoeuvre les Nancy, France; Pharmacy Unit, University Hospital, CHU Brabois, Vandoeuvre les Nancy, France.; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children’s Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France. Electronic address: f.feillet@chru-nancy.fr.
Passing Strategies and Performative Identities: Coping with (In)Visible Chronic Diseases. J Med Humanit (2019). Spratt TJR.
Department of Sociology, University of Cambridge, 16 Mill Lane, Cambridge, CB2 1SB, UK. ts648@cam.ac.uk.
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. Osteoarthritis Cartilage 27(8):1244-1251 (2019). Taylor AM, Jenks DD, Kammath VD, Norman BP, Dillon JP, Gallagher JA, Ranganath LR, Kerns JG. doi.org/10.1016/j.joca.2019.04.012
Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address: a.m.taylor@lancaster.ac.uk.; Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address: d.jenks@lancaster.ac.uk.; Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address: v.kammath@lancaster.ac.uk.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Electronic address: Brendan.Norman@liverpool.ac.uk.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Electronic address: dillon@liv.ac.uk.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Electronic address: jag1@liv.ac.uk.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Liverpool, UK. Electronic address: lrang@liv.ac.uk.; Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address: j.kerns@lancaster.ac.uk.
Child with Discrepant Urine Protein Results. Clin Chem 65(11):1465-1466 (2019). Vaudran L, Schraen S, Kim I, Dessein AF, Onraed B. doi.org/10.1373/clinchem.2019.303578
Institute of Biochemistry, Biology and Pathology Center, Lille University Hospital. lvaudran@gmail.com.; Institute of Biochemistry, Biology and Pathology Center, Lille University Hospital.
No ochronosis was seen at internal thoracic artery with alkaptonuria. Asian Cardiovasc Thorac Ann 27(6):486-488 (2019). Watanabe T, Harada R, Mikami T, Numaguchi R, Doi H, Kawaharada N. doi.org/10.1177/0218492318813791
Department of Cardiovascular Surgery, School of Medicine, Sapporo Medical University, Hokkaido, Japan.
Black-Colored Ligamentum Flavum Due to Alkaptonuria. J Neurol Surg A Cent Eur Neurosurg 80(2):131-133 (2019). Yucetas SC, Ucler N. doi.org/10.1055/s-0038-1675784
Department of Neurosurgery, Adiyaman University, Education and Research Hospital, Adiyaman, Turkey.
Alteration of Metabolic Pathways in Osteoarthritis. Metabolites 9(1):11 (2019). Zhai G. doi.org/10.3390/metabo9010011
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL A1B 3V6, Canada. guangju.zhai@med.mun.ca.
Arthroplasty in Alkaptonuric Ochronosis. J Popul Ther Clin Pharmacol 26(2):e20-e24 (2019). Zmerly H, Moscato M, Di Gregori V. doi.org/10.15586/jptcp.v26i2.624
UCM Malta, Ludes Lugano Campus, Lugano, Switzerland.; Department of Orthopaedic Surgery, San Pier Damiano Hospital, GVM, Care and Research, Faenza, Italy. zmerly@libero.it.
Reduction of frontal plane knee load caused by lateral trunk lean depends on step width. Gait Posture 61:483-487 (2018). Anderson J, King S, Przybyla A, Ranganath L, Barton G. doi.org/10.1016/j.gaitpost.2018.02.022
Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 2ET, UK. Electronic address: jenny@toffeln.com.; Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 2ET, UK. Electronic address: Stephanie.King@hull.ac.uk.; Department of Physical Therapy, University of North Georgia, 159 Sunset Drive, HNS #444, Dahlonega, GA 30597. Electronic address: andrzej.przybyla@ung.edu.; National Alkaptonuria Centre, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK. Electronic address: lrang@liverpool.ac.uk.; Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 2ET, UK. Electronic address: g.j.barton@ljmu.ac.uk
Inborn errors of metabolism in the 21st century: past to present. Ann Transl Med 6(24):467 (2018). Arnold GL. doi.org/10.21037/atm.2018.11.36
Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
A case of ‘blue skin’ and ‘dark urine’. Med J Armed Forces India 74(3):300-303 (2018). Arora S, Sodhi N, Harith AK, Kapoor U. doi.org/10.1016/j.mjafi.2017.06.009
Senior Advisor & Professor (Dermatology), Command Hospital (Air Force), Bengaluru, India.; Dermatologist, Department of Dermatology, Military Hospital, Jalandhar, India.; Additional Professor, Department of Biochemistry, All India Institute of Medical Sciences, Rishikesh, India.; Commanding Officer, Armed Forces Transfusion Centre, Delhi Cantt, India
A rare cause of aortic valve stenosis: Ochronosis. Turk Gogus Kalp Damar Cerrahisi Derg 26(3):467-469 (2018). Atalay A, Polat V, Turhan N, Taşoğlu İ. doi.org/10.5606/tgkdc.dergisi.2018.15552
Department of Cardiovascular Surgery, Türkiye Yüksek İhtisas Training and Research Hospital, Ankara, Turkey.; Department of Pathology, Türkiye Yüksek İhtisas Training and Research Hospital, Ankara, Turkey
Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project. Osteoarthritis Cartilage 26(8):1078-1086 (2018). Braconi D, Giustarini D, Marzocchi B, Peruzzi L, Margollicci M, Rossi R, Bernardini G, Millucci L, Gallagher JA, Le Quan Sang KH, Imrich R, Rovensky J, Al-Sbou M, Ranganath LR, Santucci A. doi.org/10.1016/j.joca.2018.05.017
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy. Electronic address: braconi2@unisi.it.; Dipartimento Scienze Mediche, Chirurgiche e Neuroscienze, Università degli Studi di Siena, Siena, Italy. Electronic address: giustarini@unisi.it.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy; UOC Patologia Clinica, Azienda Ospedaliera Senese, Siena, Italy. Electronic address: barbara.marzocchi@unisi.it.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy; UOC Medicina Molecolare e Genetica, Azienda Ospedaliera Senese, Siena, Italy. Electronic address: luana.peruzzi@unisi.it.; UOC Medicina Molecolare e Genetica, Azienda Ospedaliera Senese, Siena, Italy. Electronic address: m.margollicci@ao-siena.toscana.it.; Dipartimento Scienze della Vita, Università degli Studi di Siena, Siena, Italy. Electronic address: ranieri.rossi@unisi.it.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy. Electronic address: bernardini@unisi.it.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy. Electronic address: millucci2@unisi.it.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK. Electronic address: J.A.Gallagher@liverpool.ac.uk.; Hôpital Necker-Enfants Malades, Paris Cedex 15, France. Electronic address: kh.lequansang@aphp.fr.; Center for Molecular Medicine, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: ueenmri@savba.sk.; National Institute of Rheumatic Diseases, Piešťany, Slovakia. Electronic address: rovensky.jozef@gmail.com.; Department of Pharmacology, Alkaptonuria Research Office, Faculty of Medicine, Mutah University, Mutah, Karak, Jordan. Electronic address: mohsb74@yahoo.com.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK; Department of Clinical Biochemistry and Metabolism, Royal Liverpool University Hospital, Liverpool, UK. Electronic address: lrang@liv.ac.uk.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy. Electronic address: annalisa.santucci@unisi.it
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. Am J Pathol 188(4):1059-1068 (2018). Brunetti G, Tummolo A, D’Amato G, Gaeta A, Ortolani F, Piacente L, Giordano P, Colucci S, Grano M, Papadia F, Faienza MF. doi.org/10.1016/j.ajpath.2017.12.008
Department of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University “Aldo Moro” of Bari, Bari, Italy. Electronic address: giacomina.brunetti@uniba.it.; Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children’s Hospital, Bari, Italy.; Neonatal Intensive Care Unit, Di Venere Hospital, Bari, Italy.; Radiology Unit, Giovanni XXIII Children’s Hospital, Bari, Italy.; Department of Biomedical Sciences and Human Oncology, Pediatric Section, University “Aldo Moro” of Bari, Bari, Italy.; Department of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University “Aldo Moro” of Bari, Bari, Italy.; Department of Emergency and Organ Transplantation, Section of Human Anatomy and Histology, University “Aldo Moro” of Bari, Bari, Italy.; Department of Biomedical Sciences and Human Oncology, Pediatric Section, University “Aldo Moro” of Bari, Bari, Italy. Electronic address: mariafelicia.faienza@uniba.it
Ochronotic arthropathy-a rare clinical case. Oxf Med Case Reports 2018(9):omu069 (2018). Couto A, Sá Rodrigues A, Oliveira P, Seara M. doi.org/10.1093/omcr/omy069
Serviço de Ortopedia e Traumatologia, Centro Hospitalar São João, Porto, Portugal
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone. Mol Genet Metab 125(1-2):135-143 (2018). Davison AS, Harrold JA, Hughes G, Norman BP, Devine J, Usher J, Hughes AT, Khedr M, Gallagher JA, Milan AM, Halford JCG, Ranganath LR. doi.org/10.1016/j.ymgme.2018.07.008
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool L7 8XP, UK; Institute of Ageing and Chronic Disease, Musculoskeletal Biology, University of Liverpool, Liverpool L69 3GA, UK. Electronic address: andrew.davison@rlbuht.nhs.uk.; Department of Psychological Sciences, University of Liverpool, Liverpool L69 7ZA, UK.; Institute of Ageing and Chronic Disease, Musculoskeletal Biology, University of Liverpool, Liverpool L69 3GA, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool L7 8XP, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool L7 8XP, UK; Institute of Ageing and Chronic Disease, Musculoskeletal Biology, University of Liverpool, Liverpool L69 3GA, UK
Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment. JIMD Rep 41:1-10 (2018). Davison AS, Norman B, Milan AM, Hughes AT, Khedr M, Rovensky J, Gallagher JA, Ranganath LR. doi.org/10.1007/8904_2017_72
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Bone and Joint Research Group, Musculoskeletal Biology, University of Liverpool, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Bone and Joint Research Group, Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.; National Institute of Rheumatic Diseases, Piešťany, Slovakia
Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. JIMD Rep 41:109-117 (2018). Davison AS, Norman BP, Smith EA, Devine J, Usher J, Hughes AT, Khedr M, Milan AM, Gallagher JA, Ranganath LR. doi.org/10.1007/8904_2018_109
Liverpool Clinical Laboratories, Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospitals Trust, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Bone and Joint Research Group, Musculoskeletal Biology, University of Liverpool, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.; Bone and Joint Research Group, Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry, Alder Hey Children’s Hospital, Liverpool, UK.; Liverpool Clinical Laboratories, Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospitals Trust, Liverpool, UK
Secondary osteoarthritis to ochronotic arthropathy – a diagnostic challenge. Rev Assoc Med Bras (1992) 64(7):583-585 (2018). Evangelista P, Parente JS, Brasileiro R, Paiva JG, Freitas MV, Moreira A, Alves AP, Costa I. doi.org/10.1590/1806-9282.64.07.583
Rheumatology, General Hospital Geral César Cals, Fortaleza, Ceará, Brasil.; University of Sao Paulo, Campus of Ribeirao Preto, Ribeirão Preto, São Paulo, Brasil.; Ophthalmology, General Hospital Geral César Cals, Fortaleza, Ceará, Brasil.; Pathology, General Hospital Geral César Cals, Fortaleza, Ceará, Brasil
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. Forensic Sci Med Pathol 14(2):236-240 (2018). Freeman AR, Wills SM. doi.org/10.1007/s12024-018-9965-y
SA Pathology, Frome Rd, Adelaide, South Australia, 5000, Australia.; Forensic Science SA, GPO Box 2790, Adelaide, SA, 5001, Australia. stephen.wills@sa.gov.au.; The University of Adelaide, Adelaide, South Australia, 5005, Australia. stephen.wills@sa.gov.au
Ochronosis of Mitral Valve and Coronary Arteries. Ann Thorac Surg 106(1):e19-e20 (2018). Gottschalk BH, Blankenstein J, Guo L. doi.org/10.1016/j.athoracsur.2018.01.074
Division of Cardiac Surgery, London Health Sciences Centre, Western University, London, Ontario, Canada.; Division of Cardiac Surgery, London Health Sciences Centre, Western University, London, Ontario, Canada. Electronic address: linrui.guo@lhsc.on.ca
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone. Data Brief 20:1620-1628 (2018). Griffin R, Psarelli EE, Cox TF, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA, Ranganath LR. doi.org/10.1016/j.dib.2018.09.021
Liverpool Cancer Trials Unit, University of Liverpool, Block C, Waterhouse Building, Liverpool L69 3GL, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; AKU Society, 66 Devonshire Road, Cambridge, UK.; Department of Physiotherapy, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Rheumatology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Musculoskeletal Biology, University of Liverpool, L69 7ZX, UK.; Department of Dermatology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Anaesthesia, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Ophthalmology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Cardiology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of ENT, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Nuclear Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Department of Psychological Sciences, University of Liverpool, L69 7ZX, UK.; School of Sport and Exercise Science, Liverpool John Moores University, Liverpool, UK
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism. Isr Med Assoc J 20(4):260-261 (2018). Hakim R, Rozen N, Zatkova A, Krausz J, Elmalah I, Spiegel R. http://www.ima.org.il/IMAJ/ViewArticle.aspx?year=2018&month=04&page=260
Orthopedic Department, Emek Medical Center, Afula, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Tissue Diagnostics and Cancer Research Institute, Emek Medical Center, Afula, Israel.; Pediatric Department B, Emek Medical Center, Afula, Israel
Surgical Management in Cervical Spondylotic Myelopathy Due to Alkaptonuria. World Neurosurg 113:308-311 (2018). Karadag A, Sandal E, Middlebrooks EH, Senoglu M. doi.org/10.1016/j.wneu.2018.02.148
Department of Neurosurgery, Saglik Bilimleri University, Tepecik Research and Training Hospital, Izmir, Turkey.; Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA.; Department of Neurosurgery, Saglik Bilimleri University, Tepecik Research and Training Hospital, Izmir, Turkey. Electronic address: mehmetsenoglu@hotmail.com
Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria. JIMD Rep 40:31-37 (2018). Khedr M, Judd S, Briggs MC, Hughes AT, Milan AM, Stewart RMK, Lock EA, Gallagher JA, Ranganath LR. doi.org/10.1007/8904_2017_62
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK. mkhedr@liverpool.ac.uk.; Department of Nutrition and Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Ophthalmology, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, William Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK.; Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne, VIC, 3002, Australia.; Department of Eye and Vision Science, University of Liverpool, Liverpool, UK.; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University, Byrom Street, Liverpool, L3 3AF, UK
How to Measure Tissue Oxygenation Using Near-Infrared Spectroscopy in a Patient With Alkaptonuria. J Cardiothorac Vasc Anesth 32(6):2708-2711 (2018). Kovač P, Miš K, Pirkmajer S, Marš T, Klokočovnik T, Kotnik G, Podbregar E, Podbregar M. doi.org/10.1053/j.jvca.2018.01.020
Clinical Department for Anesthesiology and Surgical Intensive Care Unit, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Institute of Pathophysiology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Department for Cardiovascular Surgery, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Department for Anesthesiology and Surgical Intensive Care Unit, University Medical Centre Ljubljana, Ljubljana, Slovenia; Institute of Pathophysiology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address: matej.podbregar@guest.arnes.si
[Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty]. Braz J Anesthesiol 68(3):307-310 (2018). Kozanhan B. doi.org/10.1016/j.bjan.2017.04.018
Konya Education and Research Hospital, Department of Anesthesiology and Reanimation, Konya, Turkey. Electronic address: betulkozanhan@gmail.com
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features. JIMD Rep 41:53-62 (2018). Langford B, Besford M, Hall A, Eddowes L, Timmis O, Gallagher JA, Ranganath L. doi.org/10.1007/8904_2018_98
Costello Medical, Cambridge, UK. bryony.langford@costellomedical.com.; Costello Medical, Cambridge, UK.; AKU Society, Cambridge, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Royal Liverpool University Hospital, Liverpool, UK
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. J Cardiothorac Vasc Anesth 32(5):2286-2288 (2018). Namekawa M, Ishida K, Kimura M, Fujii C, Yamashita S. doi.org/10.1053/j.jvca.2017.12.046
Department of Anesthesiology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan. Electronic address: mn14383@kchnet.or.jp.; Department of Anesthesiology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan.; Department of Anesthesiology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan
Alkaptonuria, a new association of distal renal tubular acidosis. Saudi J Kidney Dis Transpl 29(4):997-999 (2018). Nickavar A, Azar MR. doi.org/10.4103/1319-2442.239645
Department of Pediatric Nephrology, Hazrat Aliasghar Childrens’ Hospital, Iran University of Medical Sciences, Tehran, Iran.; Department of Pediatric Endocrinology, Hazrat Aliasghar Childrens’ Hospital, Iran University of Medical Sciences; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design. Biomed Chromatogr 32(7):e4216 (2018). Öztekin N, Balta GS, Cansever MŞ. doi.org/10.1002/bmc.4216
Department of Chemistry, Istanbul Technical University, Istanbul, Turkey.; Department of Pediatrics, Division of Metabolism and Nutrition, Cerrahpaşa Medical School, University of Istanbul, Istanbul, Turkey
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. Mol Genet Metab 125(1-2):127-134 (2018). Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Griffin R, Psarelli EE, Cox TF, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA. doi.org/10.1016/j.ymgme.2018.07.011
Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK. Electronic address: lrang@liv.ac.uk.; Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Physiotherapy, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Rheumatology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK; Department of Musculoskeletal Biology, University of Liverpool, L69 7ZX, UK.; Dermatology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Anaesthesia, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Ophthalmology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Cardiology, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; ENT, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Nuclear Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.; Liverpool Cancer Trials Unit, University of Liverpool, Block C, Waterhouse Building, Liverpool L69 3GL, UK.; AKU Society, 66 Devonshire Road, Cambridge, UK.; Department of Musculoskeletal Biology, University of Liverpool, L69 7ZX, UK.; Department of Psychological Sciences, University of Liverpool, L69 7ZX, UK.; Liverpool John Moores University, Liverpool, UK
An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. JBJS Case Connect 8(3):e55 (2018). Rocchi V, Shapiro B, Fraser MR. doi.org/10.2106/JBJS.CC.18.00038
Department of Orthopaedic Surgery, Naval Medical Center San Diego, San Diego, California.; Naval Hospital Guam, Hagåtña, Guam.; Rebound Orthopedics & Neurosurgery, Vancouver, Washington
Ochronosis of the aortic valve. J Thorac Dis 10(5):E332-E334 (2018). Selvakumar D, Sian K, Sugito S, Singh T. doi.org/10.21037/jtd.2018.05.16
Faculty of Health and Medicine, The University of Newcastle, Callaghan Campus, Newcastle, New South Wales, Australia.; Department of Cardiothoracic Surgery, John Hunter Hospital, New Lambton Heights, New South Wales, Australia
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. Comput Biol Med 103:1-7 (2018). Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. doi.org/10.1016/j.compbiomed.2018.10.002
Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: ottavia.spiga@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy; Toscana Life Sciences Foundation, Siena, Italy. Electronic address: cicaloni@student.unisi.it.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences Bratislava, Slovakia. Electronic address: zatkova.andrea@gmail.com.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: millucci2@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: bernardini@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: andrea.bernini@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy; UOC Patologia Clinica, Azienda Ospedaliera Senese, Siena, Italy. Electronic address: barbara.marzocchi@unisi.it.; Department of Information Engineering and Mathematics, University of Siena, Italy. Electronic address: monica.bianchini@unisi.it.; Department of Information Engineering and Mathematics, University of Siena, Italy; DIINFO, University of Florence, Italy. Electronic address: andrea.zugarini@student.unisi.it.; Department of Information Engineering and Mathematics, University of Siena, Italy; DIINFO, University of Florence, Italy. Electronic address: alberto-rossi@hotmail.it.; Department of Information Engineering and Mathematics, University of Siena, Italy. Electronic address: zazzeri6@student.unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: alfonso.trezza@student.unisi.it.; Department of Medical Surgical and NeuroSciences Mediche, Chirurgiche e Neuroscienze, University of Siena, Italy. Electronic address: bruno.frediani@unisi.it.; Department of Clinical Biochemistry and Metabolism, Royal Liverpool University Hospital, Liverpool, UK; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK. Electronic address: lrang@liv.ac.uk.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: braconi2@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy (Department of Excellence 2018-2022), University of Siena, Italy. Electronic address: annalisa.santucci@unisi.it
Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report. J Foot Ankle Surg 57(1):179-183 (2018). Tanoğlu O, Arıcan G, Özmeriç A, Alemdaroğlu KB, Çaydere M. doi.org/10.1053/j.jfas.2017.07.012
Specialist in Orthopaedics, Orthopaedics and Traumatology Clinics, Ankara Research and Training Hospital, Ankara, Turkey. Electronic address: drtanoglu@gmail.com.; Resident in Orthopaedics, Orthopaedics and Traumatology Clinics, Ankara Research and Training Hospital, Ankara, Turkey.; Associate Professor in Orthopaedics, Orthopaedics and Traumatology Clinics, Ankara Research and Training Hospital, Ankara, Turkey.; Professor in Orthopaedics, Orthopaedics and Traumatology Clinics, Ankara Research and Training Hospital, Ankara, Turkey.; Specialist in Pathology, Department of Pathology, Ankara Research and Training Hospital, Ankara, Turkey
Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria. Bioanalysis 10(23):1919-1932 (2018). Taylor JM, Hughes AT, Milan AM, Rudge J, Davison AS, Ranganath LR. doi.org/10.4155/bio-2018-0193
Department of Clinical Biochemistry & Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK.; Musculoskeletal Biology 1, Institute of Aging and Chronic Disease, University of Liverpool, Liverpool, L7 8TX, UK.; Neoteryx LLC, Torrence, CA 90501, USA
Alkaptonuria. Med J Armed Forces India 74(4):394-396 (2018). Thapa M, Bhatia M, Maurya VK. doi.org/10.1016/j.mjafi.2017.06.006
Resident, Department of Radiodiagnosis, Armed Forces Medical College, Pune 411040, India.; Commanding Officer, 10 Air Force Hospital, C/o 99 APO, India.; Associate Professor, Department of Radiodiagnosis, Armed Forces Medical College, Pune 411040, India
Absorbance measurements of oxidation of homogentisic acid accelerated by the addition of alkaline solution with sodium hypochlorite pentahydrate. Sci Rep 8(1):11364 (2018). Tokuhara Y, Shukuya K, Tanaka M, Sogabe K, Ejima Y, Hosokawa S, Ohsaki H, Morinishi T, Hirakawa E, Yatomi Y, Shimosawa T. doi.org/10.1038/s41598-018-29769-w
Department of Medical Technology, Ehime Prefectural University of Health Sciences, Ehime, Japan. ytokuhara@epu.ac.jp.; Department of Clinical Laboratory, School of Medicine, the University of Tokyo, Tokyo, Japan.; Kaneka Techno Research Corporation, Hyogo, Japan.; Kaneka Corporation, Vinyls and Chlor-Alkali Solutions Vehicle, Osaka, Japan.; Department of Medical Technology, Ehime Prefectural University of Health Sciences, Ehime, Japan.; Department of Medical Biophysics, Kobe University Graduate School of Health Sciences, Kobe, Japan.; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Kagawa, Japan.; Clinical Laboratory Medicine, School of Medicine, International University of Health and Welfare, Chiba, Japan
The role of the clinician in the multi-omics era: are you ready?. J Inherit Metab Dis 41(3):571-582 (2018). van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. doi.org/10.1007/s10545-017-0128-1
Department of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. c.d.vankarnebeek@amc.nl.; Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, University of British Columbia, Vancouver, BC, Canada. c.d.vankarnebeek@amc.nl.; Deparment of Pediatrics (Room H7-224), Emma Children’s Hospital, Academic Medical Centre, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. c.d.vankarnebeek@amc.nl.; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, University of British Columbia, Vancouver, BC, Canada.; Departments of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, Vancouver, BC, Canada.; Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, CA, Canada.; Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, CA, Canada.; Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Laboratory Division & Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. JIMD Rep 40:7-9 (2018). White A, C Tchan M. doi.org/10.1007/8904_2017_56
Westmead Hospital, Westmead, NSW, Australia.; Sydney University, Sydney Medical School, Westmead, NSW, Australia.; Westmead Hospital, Westmead, NSW, Australia. Michel.tchan@health.nsw.gov.au.; Sydney University, Sydney Medical School, Westmead, NSW, Australia. Michel.tchan@health.nsw.gov.au.; Department of Genetic Medicine, Westmead Hospital, PO Box 533, Wentworthville, NSW, 2145, Australia. Michel.tchan@health.nsw.gov.au
Musculoskeletal manifestations of alkaptonuria: A case report and literature review. Eur J Rheumatol 6(2):98-101 (2018). Wu K, Bauer E, Myung G, Fang MA. doi.org/10.5152/eurjrheum.2018.18116
Division of Rheumatology, University of California David Geffen School of Medicine, Los Angeles, USA.; Rheumatology Section, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan. Neurol Int 8(4):6841 (2017). Alrawashdeh O, Alsbou M, Alzoubi H, Al-Shagahin H. doi.org/10.4081/ni.2016.6841
Departments of Clinical Neurology.; Pharmacology.; Microbiology.; Special Surgery Faculty of Medicine, Mutah University , Jordan
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria. Comput Biol Chem 70:133-141 (2017). Bernini A, Galderisi S, Spiga O, Bernardini G, Niccolai N, Manetti F, Santucci A. doi.org/10.1016/j.compbiolchem.2017.08.008
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100 Siena, Italy. Electronic address: andrea.bernini@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100 Siena, Italy
An Unusual Cause of Myelopathy: Ochronotic Spondyloarthropathy With Positive HLA B27. Am J Phys Med Rehabil 96(11):e206-e209 (2017). Bozkurt S, Aktekin L, Uğurlu FG, Balci S, Sezer N, Akkus S. doi.org/10.1097/PHM.0000000000000727
From the Atatürk Educational and Research Hospital, Physical Medicine and Rehabilitation Clinic (S. Bozkurt); and Physical Medicine and Rehabilitation Department (LA, FGU, NS, SA) and Pathology Department (S. Balci), Yildirim Beyazit University, Ankara, Turkey
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins. Biochim Biophys Acta Gen Subj 1861(2):135-146 (2017). Braconi D, Millucci L, Bernini A, Spiga O, Lupetti P, Marzocchi B, Niccolai N, Bernardini G, Santucci A. doi.org/10.1016/j.bbagen.2016.11.026
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy.; Dipartimento di Scienze della Vita, Università degli Studi di Siena, 53100, Siena, Italy.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy. Electronic address: annalisa.santucci@unisi.it
Alkaptonuria: A case report. Indian J Ophthalmol 65(6):518-521 (2017). Damarla N, Linga P, Goyal M, Tadisina SR, Reddy GS, Bommisetti H. doi.org/10.4103/ijo.IJO_337_16
Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. Semin Cardiothorac Vasc Anesth 21(4):364-366 (2017). El-Sayed Ahmed MM, Hussain O, Ott DA, Aftab M. doi.org/10.1177/1089253217720284
1 Texas Heart Institute, Houston, TX, USA.; 2 Mayo Clinic, Jacksonville, FL, USA.; 3 Zagazig University, Zagazig, Egypt.; 4 Cleveland Clinic, Cleveland, OH, USA.; 5 University of Colorado Denver, Aurora, CO, USA
Alkaptonuria: A Case Report With Diagnostic Challenge. S D Med 70(8):366-368 (2017). Gali VL, Kerkvliet AM, Kusmak JM, Elwood JK.
Department of Pathology, University of South Dakota Sanford School of Medicine.; Department of Dermatology, University of South Dakota Sanford School of Medicine
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria. J Cell Physiol 232(11):3103-3111 (2017). Gambassi S, Geminiani M, Thorpe SD, Bernardini G, Millucci L, Braconi D, Orlandini M, Thompson CL, Petricci E, Manetti F, Taddei M, Knight MM, Santucci A. doi.org/10.1002/jcp.25761
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.; Institute of Bioengineering, School of Engineering and Materials Science, Queen Mary University of London, Mile End Rd, London, United Kingdom
Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy – A case report. J Clin Orthop Trauma 8(Suppl 1):S80-S83 (2017). Gupta PK, Acharya A, Sabat D, Mourya A. doi.org/10.1016/j.jcot.2016.11.009
Orthopaedic Department, Sir Ganga Ram Hospital, Room no 1218-A, Rajendra Nagar, New Delhi, India.; Orthopaedic Department, Maulana Azad Medical College, 6th floor, Room no 603, New Delhi, India
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. Clin Biochem 50(3):121-126 (2017). Hampe MH, Panaskar SN, Yadav AA, Ingale PW. doi.org/10.1016/j.clinbiochem.2016.10.015
PreventiNe Life Care, Navi Mumbai, Maharashtra, India. Electronic address: mahesh.hampe@preventine.com.; PreventiNe Life Care, Navi Mumbai, Maharashtra, India
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. Zhejiang Da Xue Xue Bao Yi Xue Ban 46(3):240-247 (2017). Hong F, Huang X, Zhang Y, Yang J, Tong F, Mao H, Huang X, Zhou X, Yang R, Zhao Z.
Department of Genetics and Metabolic Diseases, the Children’s Hospital, Zhejiang University School of Medicine, Neonatal Screening Center of Zhejiang Province, Hangzhou 310003, China.; Department of Genetics and Metabolic Diseases, the Children’s Hospital, Zhejiang University School of Medicine, Neonatal Screening Center of Zhejiang Province, Hangzhou 310003, China. zhaozy@zju.edu.cn
Clinical Images: Ochronotic arthropathy. Arthritis Rheumatol 69(11):2208 (2017). Jafri K, Gensler LS, Link TM. doi.org/10.1002/art.40184
University of California, San Francisco
Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis. Br J Dermatol 177(2):e28 (2017). Jha AK, Sonthalia S, Lallas A. doi.org/10.1111/bjd.15672
Patna Medical College, Skin & V.D., Patna, Bihar, India.; SKINNOCENCE: The Skin Clinic, Gurgaon, India.; First Department of Dermatology, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interpreting sources of variation in clinical gait analysis: A case study. Gait Posture 52:1-4 (2017). King SL, Barton GJ, Ranganath LR. doi.org/10.1016/j.gaitpost.2016.10.022
Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, United Kingdom.; Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, United Kingdom. Electronic address: g.j.barton@ljmu.ac.uk.; National Alkaptonuria Centre, Royal Liverpool University Hospital, Liverpool, United Kingdom
A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum. Int J Surg Case Rep 38:192-195 (2017). Masoud HMF, Alhawari HH, Alryalat NT, Murshidi MM, Murshidi MM. doi.org/10.1016/j.ijscr.2017.07.041
Jordan University Hospital, Queen Rania Street, Amman 11942, Jordan. Electronic address: husam_med_82@hotmail.com.; Jordan University Hospital, Queen Rania Street, Amman 11942, Jordan. Electronic address: h.hawari@ju.edu.jo.; Jordan University Hospital, Queen Rania Street, Amman 11942, Jordan. Electronic address: nosryalat@yahoo.com.; Jordan University Hospital, Queen Rania Street, Amman 11942, Jordan. Electronic address: muayyadmurshidi@icloud.com.; Jordan University Hospital, Queen Rania Street, Amman 11942, Jordan. Electronic address: mujalli_mhailan@hotmail.com
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Ann Clin Biochem 54(3):323-330 (2017). Milan AM, Hughes AT, Davison AS, Devine J, Usher J, Curtis S, Khedr M, Gallagher JA, Ranganath LR. doi.org/10.1177/0004563217691065
Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.; Bone and Joint Research Group, Musculoskeletal Biology, University of Liverpool, Liverpool, UK
Histological and Ultrastructural Characterization of Alkaptonuric Tissues. Calcif Tissue Int 101(1):50-64 (2017). Millucci L, Bernardini G, Spreafico A, Orlandini M, Braconi D, Laschi M, Geminiani M, Lupetti P, Giorgetti G, Viti C, Frediani B, Marzocchi B, Santucci A. doi.org/10.1007/s00223-017-0260-9
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.; Immunoematologia Trasfusionale, Azienda Ospedaliera Universitaria Senese, Viale Bracci, Siena, Italy.; Dipartimento di Scienze della Vita, Università degli Studi di Siena, via A. Moro 2, Siena, Italy.; Dipartimento di Scienze Fisiche, della Terra e dell’Ambiente, Università degli Studi di Siena, Strada Laterina 8, Siena, Italy.; Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze, Università degli Studi di Siena, Viale Bracci, Siena, Italy.; U. O. C. Patologia Clinica, Azienda Ospedaliera Universitaria Senese, Viale Bracci, Siena, Italy.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy. annalisa.santucci@unisi.it
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease. Biochim Biophys Acta Gen Subj 1861(5 Pt A):1000-1008 (2017). Mitri E, Millucci L, Merolle L, Bernardini G, Vaccari L, Gianoncelli A, Santucci A. doi.org/10.1016/j.bbagen.2017.02.008
Elettra Sincrotrone Trieste, S.S. 14 km 163.5, 34149 Basovizza, Italy.; Dipartimento di Biotecnologie Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100 Siena, Italy.; Dipartimento di Biotecnologie Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100 Siena, Italy. Electronic address: annalisa.santucci@unisi.it
Dark Colored Urine in a 2-Year-Old Child. Clin Chem 63(3):786-788 (2017). Peake RW, Bodamer OA. doi.org/10.1373/clinchem.2016.269910
Department of Laboratory Medicine, Boston Children’s Hospital, Boston, MA; roy.peake@childrens.harvard.edu.; Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital, Boston, MA
Symptomatic pseudarthrosis in ochronotic spine: case report. J Neurosurg Spine 26(2):220-228 (2017). Rahimizadeh A, Soufiani H, Hassani V, Rahimizadeh A. doi.org/10.3171/2016.5.SPINE15671
Pars Advanced and Minimally Invasive Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran; and.; Birmingham Medical School, Birmingham, United Kingdom
4-Hydroxyphenylpyruvate Dioxygenase and Its Inhibition in Plants and Animals: Small Molecules as Herbicides and Agents for the Treatment of Human Inherited Diseases. J Med Chem 60(10):4101-4125 (2017). Santucci A, Bernardini G, Braconi D, Petricci E, Manetti F. doi.org/10.1021/acs.jmedchem.6b01395
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena , via A. Moro 2, I-53100 Siena, Italy
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. J Coll Physicians Surg Pak 27(4):218-221 (2017). Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B.
Departments of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi.; Departments of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi
Alkaptonuric Ochronosis. Urology 100:e3-e4 (2017). Singh O, Muthukrishna Pandian R, Sudhakar Kekre N. doi.org/10.1016/j.urology.2016.09.035
Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India. Electronic address: dronkarsingh@gmail.com.; Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India
Clinical and imaging mimickers of axial spondyloarthritis. Semin Arthritis Rheum 47(3):361-368 (2017). Slobodin G, Lidar M, Eshed I. doi.org/10.1016/j.semarthrit.2017.05.009
Rheumatology Unit, Bnai Zion Medical Center, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel. Electronic address: gslobodin@yahoo.com.; Rheumatology Unit, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Diagnostic Imaging, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
ApreciseKUre: an approach of Precision Medicine in a Rare Disease. BMC Med Inform Decis Mak 17(1):42 (2017). Spiga O, Cicaloni V, Bernini A, Zatkova A, Santucci A. doi.org/10.1186/s12911-017-0438-0
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy. ottavia.spiga@unisi.it.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Toscana Life Sciences Foundation, Siena, Italy.; Institute for Clinical and Translational Research Biomedical Research Center, Slovak Academy of Sciences Bratislava, Bratislava, Slovakia
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. Rheumatology (Oxford) 56(1):156-164 (2017). Taylor AM, Hsueh MF, Ranganath LR, Gallagher JA, Dillon JP, Huebner JL, Catterall JB, Kraus VB. doi.org/10.1093/rheumatology/kew355
Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Lancaster, UK a.m.taylor@lancs.ac.uk.; Department of Medicine, Duke University School of Medicine, Duke Molecular Physiology Institute.; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.; Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC, USA
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. JIMD Rep 35:79-85 (2017). Taylor AM, Vercruysse KP. doi.org/10.1007/8904_2016_27
Faculty of Health and Medicine, Lancaster Medical School, Lancaster University, Bailrigg, Lancaster, LA1 4YW, UK. a.m.taylor@lancaster.ac.uk.; Department of Chemistry, Tennessee State University, Nashville, TN, 37209, USA
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. J Cell Physiol 232(9):2407-2417 (2017). Thorpe SD, Gambassi S, Thompson CL, Chandrakumar C, Santucci A, Knight MM. doi.org/10.1002/jcp.25839
Institute of Bioengineering, School of Engineering and Materials Science, Queen Mary University of London, London, United Kingdom.; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy
Aortic Valve Stenosis in Alkaptonuria. Ann Thorac Surg 103(6):e557 (2017). Tourmousoglou C, Nikoloudakis N, Pitsis A.
Thessaloniki Heart Institute, St. Luke’s Hospital, Thessaloniki, Greece. Electronic address: christostourmousoglou@gmail.com.; Thessaloniki Heart Institute, St. Luke’s Hospital, Thessaloniki, Greece
Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase. Bioinformation 13(5):136-139 (2017). Zolfaghari N. doi.org/10.6026/97320630013136
National institute of genetic engineering and biotechnology, Tehran, Iran
A Case of Alkaptonuria with Degenerative Collagenous Plaques and Foot Drop. Indian J Dermatol 61(6):678-680 (2016). Chandrakala C, Tharini GK, Ananthi M, Subha R. doi.org/10.4103/0019-5154.193689
Department of Dermatology, Government Villupuram Medical College Hospital, Villupuram, Tamil Nadu, India. E-mail: cckkaarkuzhali@gmail.com
Operating the blues. Clin Case Rep 4(12):1201-1202 (2016). Chatzis AC, Kanakis MA, Sofianidou J, Tsoutsinos AJ. doi.org/10.1002/ccr3.710
Department of Paediatric and Congenital Cardiac Surgery Onassis Cardiac Surgery Centre Athens Greece.; Department of Anaesthesia Onassis Cardiac Surgery Centre Athens Greece.; Department of Paediatric Cardiology Onassis Cardiac Surgery Centre Athens Greece
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy. Acta Orthop Traumatol Turc 50(5):584-586 (2016). Karaoğlu S, Karaaslan F, Mermerkaya MU. doi.org/10.1016/j.aott.2016.08.018
Acibadem Kayseri Hospital, Kayseri, Turkey. Electronic address: sinankaraoglu@hotmail.com.; Bozok University Faculty of Medicine, Department of Orthopaedics and Traumatology, Turkey
Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series. Surg Technol Int 29:261-264 (2016). Pierce TP, Issa K, Ramirez A, Sclafani S, Harwin SF, Scillia AJ, Rifai A, McInerney VK. http://surgicaltechnology.com/29-Orthopaedic-Surgery.htm#754
Department of Orthopaedics, Seton Hall University, School of Health, and Medical Sciences, South Orange, NJ.; New York Medical College, Department of Orthopaedic Surgery, Valhalla, New York.; Department of Orthopaedic Surgery, Touro College of Osteopathic Medicine, New York, New York.; Total Joint Replacement, Center for Reconstructive Joint Surgery, Mount Sinai Beth Israel Medical Center, New York, New York
Alkaptonuric Ochronosis. J Assoc Physicians India 64(4):79-80 (2016). Saigal R, Tank ML, Pathak P, Choudhary A, Saigal S.
Professor.; Associate Professor.; Resident, Department of Medicine.; Assistant Professor, Department of Surgery, Mahatma Gandhi Medical College, Jaipur, Rajasthan
Pharmacological and Toxicological Considerations of Homogentisic. Pharmacologia 3:61-74 (2012). Williams DP, Lawrence A, Meng X. Liverpool AKU Research Group. doi.org/10.5567/pharmacologia.2012.61.74
Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria. J Clin Pathol 64(10):935-936 (2011). Taylor AM, Batchelor TJ, Adams VL, Helliwell TR, Gallagher JA, Ranganath LR. doi.org/10.1136/jcp.2011.090126
Alkaptonuria. Indian J Dermatol 56(2):194-196 (2011). Tharini G, Ravindran V, Hema N, Prabhavathy D, Parveen B. doi.org/10.4103/0019-5154.80415 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108520/?tool=pubmed
An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis 34:1127-1136 (2011). Zatkova A. Slovakia AKU Research Group. doi.org/10.1007/s10545-011-9363-z https://link.springer.com/article/10.1007/s10545-011-9363-z
Inborn Errors of Metabolism. (1923). Garrod AE. Henry Frowde and Hodder & Stoughton, The Lancet Building, London. http://www.esp.org/books/garrod/inborn-errors/facsimile/title3.html