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Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder

Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagn...

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Библиографические подробности
Опубликовано в: :Proc (Bayl Univ Med Cent)
Главные авторы: Mahmood, Tashfeen, Nugent, Kenneth
Формат: Artigo
Язык:Inglês
Опубликовано: Baylor Health Care System 2015
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462228/
https://ncbi.nlm.nih.gov/pubmed/26130895
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