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Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants
Congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a spectrum of clinical phenotypes. All of these phenotypes are associated with marked overproduction of uric acid and related problems such as hyperuricemia, urate nephrolithiasis, tophi, and gout. T...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2012
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3408650/ https://ncbi.nlm.nih.gov/pubmed/22198833 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11926-011-0231-5 |
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