title: Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.
mesh_terms: D001264:Athetosis / Q000201:enzymology*; D046508:Culture Techniques; D004355:Drug Stability; D005347:Fibroblasts / Q000201:enzymology; D005796:Genes; D006147:Guanine; D006150:Guanine Nucleotides; D006358:Hot Temperature; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability / Q000201:enzymology*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics; D009154:Mutation; D009711:Nucleotides; D010428:Pentosephosphates; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D012652:Self Mutilation / Q000201:enzymology*; D012867:Skin / Q000473:pathology; D014166:Transferases / Q000037:antagonists & inhibitors
chemical_list: D006150:Guanine Nucleotides; D007042:Hypoxanthines; D009711:Nucleotides; D010428:Pentosephosphates; D006147:Guanine; D014166:Transferases