Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial hyperammonemia and coagulopathy is followed by a delayed peak in aminotransferase levels. None of the patients required urgent liver transpl...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Clarkston, Kathryn, Lee, Joy, Donoghue, Sarah, Peters, Heidi, Eiroa, Hernan, Shah, Amit A., Loomes, Kathleen, Wen, Jessica, Oliver, Mark, Hardikar, Winita, Prada, Carlos E., Asai, Akihiro
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7974766/
https://ncbi.nlm.nih.gov/pubmed/33369132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62031
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