A 3-year Randomized Therapeutic Trial of Nitisinone in Alkaptonuria

Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization. The first symptoms, occur...

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Bibliografiske detaljer
Main Authors:	Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O’Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.
Format:	Artigo
Sprog:	Inglês
Udgivet:	2011
Fag:	Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3148330/ https://ncbi.nlm.nih.gov/pubmed/21620748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.04.016
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A 3-year Randomized Therapeutic Trial of Nitisinone in Alkaptonuria

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