[Hyperuricemia associated with inborn errors of purine metabolism: screening, enzymatic and genetic diagnosis].
Yamada
Yasukazu
Y
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center.
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
D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase