Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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2012
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| Mynediad Ar-lein: | 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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