A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity.
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Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.
Yu
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Fontenessi
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Nyhan
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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
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