A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate

Neurology. 2000 Feb 22;54(4):1008. doi: 10.1212/wnl.54.4.1008.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Female
  • Heterozygote
  • Humans
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Phenylbutyrates / therapeutic use*
  • Pregnancy
  • X Chromosome / genetics*

Substances

  • Phenylbutyrates