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Carlos Cifuentes-González, William Rojas-Carabali, María Camila Sierra-Cote & Alejandra de-la-Torre. (2023) Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report. Ocular Immunology and Inflammation 0:0, pages 1-5.
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Sumera Zaib, Nehal Rana, Nadia Hussain, Hanan A. Ogaly, Ayed A. Dera & Imtiaz Khan. (2023) Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy. Molecules 28:6, pages 2623.
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Jessie Neuckermans, Sien Lequeue, Paul Claes, Anja Heymans, Juliette H. Hughes, Haaike Colemonts-Vroninks, Lionel Marcélis, Georges Casimir, Philippe Goyens, Geert A. Martens, James A. Gallagher, Tamara Vanhaecke, George Bou-Gharios & Joery De Kock. (2023) Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. Genes 14:3, pages 693.
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Linfeng Wu & Yu Hu. (2023) Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report. Frontiers in Surgery 9.
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Hong Ding, Liang Wang, Gan-Jun Feng, Yue-Ming Song & Li-Min Liu. (2023) Case report: Thoracolumbar spinal stenosis associated with alkaptonuria. Frontiers in Surgery 9.
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Nicolas Yap San Min, Urba Rafi, Juan Wang, Bin He & Lei Fan. (2023) Ochronotic arthropathy of bilateral hip joints: A case report. World Journal of Clinical Cases 11:1, pages 210-217.
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Daniela Grasso, Michela Geminiani, Silvia Galderisi, Gabriella Iacomelli, Luana Peruzzi, Barbara Marzocchi, Annalisa Santucci & Andrea Bernini. (2022) Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria. International Journal of Molecular Sciences 23:24, pages 15805.
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Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, Daniela Giustarini, Barbara Marzocchi, Ranieri Rossi, Giulia Bernardini, Ottavia Spiga, James A. Gallagher, Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Richard Imrich, Mohammed S. Al-Sbou, Matthew Gornall, Richard Jackson, Lakshminarayan R. Ranganath & Annalisa Santucci. (2022) Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies. Cells 11:22, pages 3668.
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Sien Lequeue, Jessie Neuckermans, Ine Nulmans, Ulrich Schwaneberg, Tamara Vanhaecke & Joery De Kock. (2022) A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. Scientific Reports 12:1.
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Andrea Zatkova, Birgitta Olsson, Lakshminarayan R. Ranganath & Richard Imrich. (2022) Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites 12:10, pages 990.
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Tsvetelina Kostova, Zguro Batalov, Rositsa Karalilova & Anastas Batalov. (2022) Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review. Rheumatology International 42:12, pages 2277-2282.
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J. Krämer & S. Krämer. (2021) Abklärung von blutigem UrinBlood in urine – Clinical diagnostics. Monatsschrift Kinderheilkunde 170:9, pages 824-827.
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A. Ladjouze-Rezig, R. Aquaron & S. Slimani. (2022) Alcaptonuria, ocronosis y artropatía ocronótica. EMC - Aparato Locomotor 55:3, pages 1-16.
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Lvyan Tao, Chengjun Deng, Mingbiao Ma, Yu Zhang, Jintao Duan, Ying Li, Li Fang, Yuantao Zhou, Xiaoli He, Yan Wang, Mingying Wang & Li Li. (2022) A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. Clinica Chimica Acta 532, pages 164-171.
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Anna Visibelli, Vittoria Cicaloni, Ottavia Spiga & Annalisa Santucci. (2022) Computational Approaches Integrated in a Digital Ecosystem Platform for a Rare Disease. Frontiers in Molecular Medicine 2.
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Andrea Soltysova, Alexandr Kuzin, Elena Samarkina & Andrea Zatkova. (2021) Alkaptonuria in Russia. European Journal of Human Genetics 30:2, pages 237-242.
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Malancha Karmakar, Vittoria Cicaloni, Carlos H.M. Rodrigues, Ottavia Spiga, Annalisa Santucci & David B. Ascher. (2022) HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase. Current Research in Structural Biology 4, pages 271-277.
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Anupam Chakrapani, Paul Gissen & Patrick McKiernan. 2022. Inborn Metabolic Diseases. Inborn Metabolic Diseases
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Chien-Yi Lai, I-Jung Tsai, Pao-Chin Chiu, David B. Ascher, Yin-Hsiu Chien, Yu-Hsuan Huang, Yi-Lin Lin, Wuh-Liang Hwu & Ni-Chung Lee. (2021) A novel deep intronic variant strongly associates with Alkaptonuria. npj Genomic Medicine 6:1.
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Ottavia Spiga, Vittoria Cicaloni, Giovanna Maria Dimitri, Francesco Pettini, Daniela Braconi, Andrea Bernini & Annalisa Santucci. (2021) Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease. Briefings in Bioinformatics 22:5.
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Nesrin Mwafi, Ali Alasmar, Monther Al-Momani, Sattam Alazaydeh, Omar Alajoulin, Mohammad Alsalem & Heba Kalbouneh. (2021) Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review. Asian Biomedicine 15:3, pages 129-136.
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Nesrin R. Mwafi, Dema A. Ali, Raida W. Khalil, Ibrahim N. Alsbou'Ahmad M. Saraireh. (2021) Novel R225C variant identified in the <i>HGD</i> gene in Jordanian patients with alkaptonuria. AIMS Molecular Science 8:1, pages 60-75.
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Dhiraj J Trivedi. (2020) Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review. International Journal of Clinical Biochemistry and Research 7:3, pages 297-301.
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