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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Inherit Metab Dis
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley & Sons, Inc. 2020
विषय:
Original Articles
ऑनलाइन पहुंच: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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