title: [Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center.
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology; D000818:Animals; D041321:Chromosomes, Human, X / Q000235:genetics; D004195:Disease Models, Animal; D005808:Genes, Recessive; D015316:Genetic Therapy; D006073:Gout / Q000209:etiology*; D006801:Humans; D033461:Hyperuricemia / Q000209:etiology*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D051379:Mice; D009154:Mutation; D011296:Prenatal Diagnosis; D013577:Syndrome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase