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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...
Gorde:
| Argitaratua izan da: | Case Rep Crit Care |
|---|---|
| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Hindawi
2017
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| Gaiak: | |
| Sarrera elektronikoa: | 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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