Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier

Int J Gynaecol Obstet. 2014 Feb;124(2):174-5. doi: 10.1016/j.ijgo.2013.09.014. Epub 2013 Oct 31.
No abstract available

Keywords: Female carrier; Menstrual neurologic symptoms; Ornithine transcarbamylase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Ammonia / blood
  • Female
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Sequence Analysis, DNA
  • Young Adult

Substances

  • Ammonia