title: The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
authors.affiliation: La Paz University Hospital, Division of Internal Medicine, Madrid, Spain.
authors.forename: J G
authors.initials: JG
authors.lastname: Puig
authors.forename: R J
authors.initials: RJ
authors.lastname: Torres
authors.forename: F A
authors.initials: FA
authors.lastname: Mateos
authors.forename: T
authors.initials: T
authors.lastname: Ramos
authors.forename: A S
authors.initials: AS
authors.lastname: Buno
authors.forename: J
authors.initials: J
authors.lastname: Arcas
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000503:physiopathology*; D008297:Male; D010375:Pedigree; D013030:Spain
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase