title: [Hyperuricemia associated with inborn errors of purine metabolism: screening, enzymatic and genetic diagnosis].
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center.
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
mesh_terms: D005820:Genetic Testing; D006801:Humans; D033461:Hyperuricemia / Q000175:diagnosis / Q000209:etiology*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D011296:Prenatal Diagnosis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D012268:Ribose-Phosphate Pyrophosphokinase / Q000378:metabolism
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase