title: Clinical and biochemical correlates of a new HPRT mutation.
mesh_terms: D002648:Child; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000235:genetics*; D007042:Hypoxanthines / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009154:Mutation
chemical_list: D007042:Hypoxanthines; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase