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Genotypic and Phenotypic Spectrum in Attenuated Variants of Lesch-Nyhan Disease
Lesch-Nyhan disease and its attenuated variants are caused by deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt). All patients exhibit excessive production of uric acid, which increases the risk for nephrolithiasis, renal failure, gouty arthritis and toph...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4122630/ https://ncbi.nlm.nih.gov/pubmed/24930028 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.05.012 |
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