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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...
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| 出版年: | Case Rep Crit Care |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Hindawi
2017
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| 主題: | |
| オンライン･アクセス: | 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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