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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: 2011
Sujets:
Article
Accès en ligne: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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