title: The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
authors.affiliation: Division of Internal Medicine, La Paz Hospital, Universidad Autónoma, 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: J
authors.initials: J
authors.lastname: Arcas
authors.forename: A
authors.initials: A
authors.lastname: Buño
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000503:physiopathology*; D013030:Spain; D013577:Syndrome
chemical_list: D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase