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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Detalles Bibliográficos
Autores principales: Santos, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S., Joyce, Nicole E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723938/
https://www.ncbi.nlm.nih.gov/pubmed/29279777
http://dx.doi.org/10.1155/2017/8724810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723938/
https://www.ncbi.nlm.nih.gov/pubmed/29279777
http://dx.doi.org/10.1155/2017/8724810

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