Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria

Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy. Recently, nitisinone treatment, which blocks HGA formation, has been effective in AKU patients. However, a consequence of nitisinone is...

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Опубликовано в: :J Inherit Metab Dis
Главные авторы: Hughes, Juliette H., Wilson, Peter J. M., Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Bou‐Gharios, George, Ranganath, Lakshminarayan R., Gallagher, James A.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2020
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7079096/
https://ncbi.nlm.nih.gov/pubmed/31503358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12172
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