A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate
- 22 February 2000
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 54 (4) , 1008
- https://doi.org/10.1212/wnl.54.4.1008
Abstract
A 27-year-old woman presented whose diagnosis of OTC deficiency was established using an enzyme …Keywords
This publication has 3 references indexed in Scilit:
- A Novel Two–Nucleotide Deletion in the Ornithine Transcarbamylase Gene Causing Fatal Hyperammonia in Early PregnancyHepatology, 1996
- Long-Term Treatment of Girls with Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1996
- Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase LocusNew England Journal of Medicine, 1990