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/...

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Detalles Bibliográficos
Autores principales: Torres, Rosa J, Puig, Juan G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Review
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

Internet

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

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