Lethal ornithine transcarbamylase deficiency in a female neonate: a new case

Acta Paediatr. 1998 Feb;87(2):227-8. doi: 10.1080/08035259850157723.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Ammonia / blood*
  • Fatal Outcome
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Ornithine Carbamoyltransferase Deficiency Disease*

Substances

  • Ammonia