Diagnostic test for congenital hyperuricemia with central nervous system dysfunction.
D002247:Carbon Isotopes; D002493:Central Nervous System Diseases / Q000209:etiology*; D004912:Erythrocytes / Q000201:enzymology; D005964:Glucosyltransferases / Q000378:metabolism*; D006801:Humans; D007042:Hypoxanthines; D007962:Leukocytes / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D008722:Methods; D014527:Uric Acid / Q000097:blood*
D002247:Carbon Isotopes; D007042:Hypoxanthines; D014527:Uric Acid; D005964:Glucosyltransferases