title: Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment.
mesh_terms: D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007700:Kinetics; D008875:Middle Aged; D009154:Mutation; D010770:Phosphotransferases / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics / Q000378:metabolism*
chemical_list: D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase