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A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity.

AuthorsT Page, A Yu, J Fontenessi, W Nyhan
JournalAdvances in experimental medicine and biology (Adv Exp Med Biol) Vol. 431 Pg. 789-92 ( 1998) ISSN: 0065-2598 [Print] United States
PMID9598171 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Multienzyme Complexes
  • Ribonucleotides
  • uridine 5'-monophosphate synthase
  • Pentosyltransferases
  • nucleoside phosphorylase
  • Orotate Phosphoribosyltransferase
  • Uridine Kinase
  • 5'-Nucleotidase
  • Orotidine-5'-Phosphate Decarboxylase
Topics
  • 5'-Nucleotidase (metabolism)
  • Cells, Cultured
  • Child
  • Child Development Disorders, Pervasive (enzymology)
  • Child, Preschool
  • Female
  • Fibroblasts (enzymology)
  • Humans
  • Male
  • Multienzyme Complexes (metabolism)
  • Orotate Phosphoribosyltransferase (metabolism)
  • Orotidine-5'-Phosphate Decarboxylase (metabolism)
  • Pentosyltransferases (metabolism)
  • Ribonucleotides (metabolism)
  • Seizures (enzymology)
  • Syndrome
  • Uridine Kinase (metabolism)

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