Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with variable expressivity in heterozygous females. While liver function testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Rajabi, Farrah, Rodan, Lance H., Jonas, Maureen M., Soul, Janet S., Ullrich, Nicole J., Wessel, Ann, Waisbren, Susan E., Tan, Wen-Hann, Berry, Gerard T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122020/
https://ncbi.nlm.nih.gov/pubmed/28887792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_55
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