title: [Lesch-Nyhan syndrome with total deficiency of the enzyme hypoxanthine phosphoribosyltransferase].
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: A
authors.initials: A
authors.lastname: Vélez
authors.forename: J
authors.initials: J
authors.lastname: García Puig
authors.forename: M
authors.initials: M
authors.lastname: López Jiménez
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005190:Family; D005192:Family Health; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D008297:Male
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
vernacular_title: Síndrome de Lesch-Nyhan con déficit total de la enzima HPRT.