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Adenylosuccinase deficiency presenting with epilepsy in early infancy.

AuthorsP D Maaswinkel-Mooij, L A Laan, W Onkenhout, O F Brouwer, J Jaeken, B J Poorthuis
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 20 Issue 4 Pg. 606-7 (Aug 1997) ISSN: 0141-8955 [Print] United States
PMID9266401 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Anticonvulsants
  • Phenobarbital
Topics
  • Anticonvulsants (therapeutic use)
  • Epilepsy, Generalized (drug therapy, etiology)
  • Female
  • Humans
  • Infant
  • Intellectual Disability (etiology)
  • Phenobarbital (therapeutic use)
  • Purine-Pyrimidine Metabolism, Inborn Errors (complications, enzymology)

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