Clinical Severity in Lesch-Nyhan Disease: the Role of Residual Enzyme and Compensatory Pathways

Mutations in the HPRT1 gene, which encodes the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), cause Lesch-Nyhan disease (LND) and more mildly affected Lesch-Nyhan variants. Prior studies have suggested a strong correlation between residual hypoxanthine recycling activi...

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Pubblicato in:Mol Genet Metab
Autori principali: Fu, Rong, Sutcliffe, Diane, Zhao, Hong, Huang, Xinyi, Schretlen, David J., Benkovic, Steve, Jinnah, H. A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277921/
https://ncbi.nlm.nih.gov/pubmed/25481104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.11.001
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