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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha: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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