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Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is...

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Pubblicato in:Case Rep Crit Care
Autori principali: Santos, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S., Joyce, Nicole E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5723938/
https://ncbi.nlm.nih.gov/pubmed/29279777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/8724810
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