Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase.
Becker
M A
MA
University of Chicago, Illinois.
Puig
J G
JG
Mateos
F A
FA
Jimenez
M L
ML
Kim
M
M
Simmonds
H A
HA
D000328:Adult; D002478:Cells, Cultured; D002648:Child; D003638:Deafness / Q000235:genetics / Q000378:metabolism*; D004789:Enzyme Activation; D005260:Female; D005347:Fibroblasts; D006073:Gout / Q000235:genetics; D006801:Humans; D007700:Kinetics; D008297:Male; D010375:Pedigree; D010428:Pentosephosphates / Q000378:metabolism*; D010754:Phosphoribosyl Pyrophosphate / Q000378:metabolism*; D010770:Phosphotransferases / Q000378:metabolism*; D011685:Purine Nucleotides / Q000097:blood*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics / Q000378:metabolism*
D010428:Pentosephosphates; D011685:Purine Nucleotides; D010754:Phosphoribosyl Pyrophosphate; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase