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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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| Publicat a: | Mol Genet Metab |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | 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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