title: Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity.
authors.affiliation: Department of Internal Medicine, La Paz Hospital, Universidad Autónoma, Madrid, Spain.
authors.forename: M L
authors.initials: ML
authors.lastname: Jiménez
authors.forename: J G
authors.initials: JG
authors.lastname: Puig
authors.forename: F A
authors.initials: FA
authors.lastname: Mateos
authors.forename: T H
authors.initials: TH
authors.lastname: Ramos
authors.forename: J S
authors.initials: JS
authors.lastname: Melián
authors.forename: V G
authors.initials: VG
authors.lastname: Nieto
authors.forename: M A
authors.initials: MA
authors.lastname: Becker
mesh_terms: 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
chemical_list: D007042:Hypoxanthines; D011685:Purine Nucleotides; D014970:Xanthines; D014527:Uric Acid; D007288:Inosine; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase