title: A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity.
authors.affiliation: Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.
authors.forename: T
authors.initials: T
authors.lastname: Page
authors.forename: A
authors.initials: A
authors.lastname: Yu
authors.forename: J
authors.initials: J
authors.lastname: Fontenessi
authors.forename: W
authors.initials: W
authors.lastname: Nyhan
mesh_terms: D015720:5'-Nucleotidase / Q000378:metabolism*; D002478:Cells, Cultured; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000201:enzymology*; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000378:metabolism; D009962:Orotate Phosphoribosyltransferase / Q000378:metabolism; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000378:metabolism; D010430:Pentosyltransferases / Q000378:metabolism; D012265:Ribonucleotides / Q000378:metabolism; D012640:Seizures / Q000201:enzymology*; D013577:Syndrome; D014541:Uridine Kinase / Q000378:metabolism
chemical_list: D009097:Multienzyme Complexes; D012265:Ribonucleotides; C027157:uridine 5'-monophosphate synthase; D010430:Pentosyltransferases; C067995:nucleoside phosphorylase; D009962:Orotate Phosphoribosyltransferase; D014541:Uridine Kinase; D015720:5'-Nucleotidase; D009964:Orotidine-5'-Phosphate Decarboxylase