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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2007
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2234399/ https://www.ncbi.nlm.nih.gov/pubmed/18067674 http://dx.doi.org/10.1186/1750-1172-2-48 |