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Drug Evaluation

Nitisinone for the treatment of hereditary tyrosinemia type I

, BSc MB BCh MRCP(UK) FRCPCH (Consultant Pediatrician)
Pages 491-497 | Published online: 21 May 2013

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A Cigdem Aktuglu-Zeybek & Tanyel Zubarioglu. (2017) Nitisinone: a review. Orphan Drugs: Research and Reviews 7, pages 25-35.
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Shreya Bhushan, Charlton Noble, Fariha Balouch, Peter Lewindon, Guy Lampe, Peter Hodgkinson, Jim McGill & Looi Ee. (2022) Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1‐fetoprotein normalization. Pediatric Transplantation 26:7.
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Andrew T. Hughes, Anna M. Milan, Ella Shweihdi, James Gallagher & Lakshminarayan Ranganath. (2022) Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine. JIMD Reports 63:4, pages 341-350.
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L.R. Ranganath, A.M. Milan, A.T. Hughes, A.S. Davison, M. Khedr, B.P. Norman, G. Bou-Gharios, J.A. Gallagher, M. Gornall, R. Jackson, R. Imrich, J. Rovensky, M. Rudebeck & B. Olsson. (2022) Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria. Molecular Genetics and Metabolism Reports 30, pages 100846.
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Lakshminarayan Ranganath, Milad Khedr, Leanne A. Evans, Helen Bygott, Emily Luangrath & Elizabeth West. (2021) Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature. JIMD Reports 61:1, pages 25-33.
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Ute Spiekerkoetter, Maria L Couce, Anibh M Das, Corinne de Laet, Carlo Dionisi-Vici, Allan M Lund, Manuel Schiff, Marco Spada, Erik Sparve, Johan Szamosi, Roshni Vara & Mattias Rudebeck. (2021) Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study. The Lancet Diabetes & Endocrinology 9:7, pages 427-435.
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James A. Gallagher, Jane P. Dillon & Lakshminarayan R. Ranganath. (2021) Development of an effective therapy for alkaptonuria – Lessons for osteoarthritis. Rheumatology and Immunology Research 2:2, pages 79-85.
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Patrick McKiernan & James E. Squires. 2021. Pediatric Liver Transplantation. Pediatric Liver Transplantation 386 396 .
Lakshminarayan R Ranganath, Eftychia Eirini Psarelli, Jean-Baptiste Arnoux, Daniela Braconi, Michael Briggs, Anders Bröijersén, Nadia Loftus, Helen Bygott, Trevor F Cox, Andrew S Davison, Jane P Dillon, Michael Fisher, Richard FitzGerald, Federica Genovese, Helena Glasova, Anthony K Hall, Andrew T Hughes, Juliette H Hughes, Richard Imrich, Jonathan C Jarvis, Milad Khedr, Dinny Laan, Kim-Hanh Le Quan Sang, Emily Luangrath, Ol'ga Lukáčová, Anna M Milan, Alpesh Mistry, Vanda Mlynáriková, Brendan P Norman, Birgitta Olsson, Nicholas P Rhodes, Jozef Rovenský, Mattias Rudebeck, Annalisa Santucci, Ella Shweihdi, Ciarán Scott, Jana Sedláková, Nicolas Sireau, Roman Stančík, Johan Szamosi, Sophie Taylor, Christa van Kan, Sobhan Vinjamuri, Eva Vrtíková, Chris Webb, Elizabeth West, Elizabeth Záňová, Andrea Zatkova & James A Gallagher. (2020) Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. The Lancet Diabetes & Endocrinology 8:9, pages 762-772.
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Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West & James A. Gallagher. (2020) Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre. JIMD Reports 55:1, pages 75-87.
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Milad Khedr, Maggie S. Cooper, Andrew T. Hughes, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Jonathan C. Jarvis, Richard Fitzgerald, Louise Markinson, Eftychia‐Eirini Psarelli, Parisa Ghane, Nicolaas E. P. Deutz, James A. Gallagher & Lakshminarayan R. Ranganath. (2020) Nitisinone causes acquired tyrosinosis in alkaptonuria. Journal of Inherited Metabolic Disease 43:5, pages 1014-1023.
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AS Davison, AT Hughes, AM Milan, N Sireau, JA Gallagher & LR Ranganath. (2019) Alkaptonuria – Many questions answered, further challenges beckon. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 57:2, pages 106-120.
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Lakshminarayan R. Ranganath, Brendan P. Norman & James A. Gallagher. (2019) Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review. Journal of Inherited Metabolic Disease 42:5, pages 776-792.
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Trevor Cox, Eftychia Eirini Psarelli, Sophie Taylor, Hannah Rose Shepherd, Mark Robinson, Gabor Barton, Alpesh Mistry, Federica Genovese, Daniela Braconi, Daniela Giustarini, Ranieri Rossi, Annalisa Santucci, Milad Khedr, Andrew Hughes, Anna Milan, Leah Frances Taylor, Elizabeth West, Nicolas Sireau, Jane Patricia Dillon, Nicholas Rhodes, James Anthony Gallagher & Lakshminarayan Ranganath. (2019) Subclinical ochronosis features in alkaptonuria: a cross-sectional study. BMJ Innovations 5:2-3, pages 82-91.
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L.R. Ranganath, M. Khedr, A.M. Milan, A.S. Davison, A.T. Hughes, J.L. Usher, S. Taylor, N. Loftus, A. Daroszewska, E. West, A. Jones, M. Briggs, M. Fisher, M. McCormick, S. Judd, S. Vinjamuri, R. Griffin, E.E. Psarelli, T.F. Cox, N. Sireau, J.P. Dillon, J.M. Devine, G. Hughes, J. Harrold, G.J. Barton, J.C. Jarvis & J.A. Gallagher. (2018) Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. Molecular Genetics and Metabolism 125:1-2, pages 127-134.
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Jane Hartley. 2018. Atlas of Pediatric Hepatology. Atlas of Pediatric Hepatology 17 26 .
A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes, M. Khedr, A. M. Milan, J. A. Gallagher & L. R. Ranganath. 2018. JIMD Reports, Volume 41. JIMD Reports, Volume 41 109 117 .
Anna M Milan, Andrew T Hughes, Andrew S Davison, Jean Devine, Jeannette Usher, Sarah Curtis, Milad Khedr, James A Gallagher & Lakshminarayan R Ranganath. (2017) The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 54:3, pages 323-330.
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Patrick J. McKiernan. 2017. Diseases of the Liver and Biliary System in Children. Diseases of the Liver and Biliary System in Children 127 143 .
Patrick McKiernan. 2017. Hereditary Tyrosinemia. Hereditary Tyrosinemia 85 91 .
A. S. Davison, B. Norman, A. M. Milan, A. T. Hughes, M. Khedr, J. Rovensky, J. A. Gallagher & L. R. Ranganath. 2018. JIMD Reports, Volume 41. JIMD Reports, Volume 41 1 10 .
Nathalie Guffon, Anders Bröijersén, Ingrid Palmgren, Mattias Rudebeck & Birgitta Olsson. 2018. JIMD Reports, Volume 38. JIMD Reports, Volume 38 81 88 .
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin & Antonia Ribes. (2016) Neonatal Screening for Inherited Metabolic Diseases in 2016. Seminars in Pediatric Neurology 23:4, pages 257-272.
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A. S. Davison, A. M. Milan, J. A. Gallagher & L. R. Ranganath. (2015) Acute fatal metabolic complications in alkaptonuria. Journal of Inherited Metabolic Disease 39:2, pages 203-210.
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P J McKiernan, Mary Anne Preece & Anupam Chakrapani. (2015) Outcome of children with hereditary tyrosinaemia following newborn screening. Archives of Disease in Childhood 100:8, pages 738-741.
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Hideaki Minoura, Megumi Iwai, Yuta Taniuchi, Masataka Katashima & Hideyuki Takahashi. (2015) Pharmacological and clinical profile of nitisinone (Orfadin<sup>®</sup> Capsules): a therapeutic agent for hereditary tyrosinemia type 1. Folia Pharmacologica Japonica 146:6, pages 342-348.
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