title: Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.
mesh_terms: D000293:Adolescent; D001264:Athetosis / Q000378:metabolism*; D002819:Chorea / Q000378:metabolism*; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood*; D007042:Hypoxanthines / Q000378:metabolism; D008607:Intellectual Disability / Q000378:metabolism; D008297:Male; D010430:Pentosyltransferases / Q000378:metabolism; D012652:Self Mutilation / Q000378:metabolism; D014527:Uric Acid / Q000097:blood*
chemical_list: D007042:Hypoxanthines; D014527:Uric Acid; D010430:Pentosyltransferases; C022484:purine phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase