Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice

Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of...

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Publicado no:JIMD Rep
Main Authors: Keenan, Craig M, Preston, Andrew J, Sutherland, Hazel, Wilson, Peter J, Psarelli, Eftychia E, Cox, Trevor F, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Gallagher, James A
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4582025/
https://ncbi.nlm.nih.gov/pubmed/25940034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_437
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