Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity.
Jiménez
M L
ML
Department of Internal Medicine, La Paz Hospital, Universidad Autónoma, Madrid, Spain.
Puig
J G
JG
Mateos
F A
FA
Ramos
T H
TH
Melián
J S
JS
Nieto
V G
VG
Becker
M A
MA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000378:metabolism*; D005260:Female; D006801:Humans; D007042:Hypoxanthines / Q000097:blood / Q000134:cerebrospinal fluid; D007288:Inosine / Q000097:blood / Q000134:cerebrospinal fluid; D008297:Male; D010375:Pedigree; D010770:Phosphotransferases / Q000378:metabolism*; D011685:Purine Nucleotides / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000378:metabolism*; D014527:Uric Acid / Q000097:blood / Q000134:cerebrospinal fluid; D014970:Xanthines / Q000097:blood / Q000134:cerebrospinal fluid
D007042:Hypoxanthines; D011685:Purine Nucleotides; D014970:Xanthines; D014527:Uric Acid; D007288:Inosine; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase