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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Bibliografische gegevens
Gepubliceerd in:Case Rep Crit Care
Hoofdauteurs: Santos, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S., Joyce, Nicole E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi 2017
Onderwerpen:
Case Report
Online toegang: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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