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A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.

Abstract
This is the first case of fulminant neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous hemodiafiltration indicating that this is an available and effective procedure for neonates with hyperammonemic coma.
AuthorsT Kosho, T Nakamura, T Kaneko, M Tamura
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 159 Issue 8 Pg. 629-30 (Aug 2000) ISSN: 0340-6199 [Print] GERMANY
PMID10968246 (Publication Type: Case Reports, Letter)
Chemical References
  • Ammonia
Topics
  • Ammonia (blood)
  • Biopsy
  • Carbamoyl-Phosphate Synthase I Deficiency Disease (blood, therapy)
  • Coma (etiology)
  • Hemodiafiltration (methods)
  • Humans
  • Infant, Newborn
  • Male
  • Treatment Outcome

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