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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Detalhes bibliográficos
Principais autores: Christan D. Santos, Robert A. Ratzlaff, Jennifer C. Meder, Paldeep S. Atwal, Nicole E. Joyce
Formato: Artigo
Idioma:English
Publicado em: Hindawi Limited 2017-01-01
coleção:Case Reports in Critical Care
Acesso em linha:http://dx.doi.org/10.1155/2017/8724810