Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error in the metabolism of the urea cycle with an incidence of 1 in 14 000 live births. Pregnancy can trigger potentially fatal hyperammonemic crises. We report a successful pregnancy in a 29-year-old primiparous patient with a kn...

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Autores principales: Lamb, Stephanie, Aye, Christina Yi Ling, Murphy, Elaine, Mackillop, Lucy
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3604418/
https://ncbi.nlm.nih.gov/pubmed/23283608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007416
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