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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2017
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| Materias: | |
| 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 |