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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Proc (Bayl Univ Med Cent)
Prif Awduron: Mahmood, Tashfeen, Nugent, Kenneth
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Baylor Health Care System 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462228/
https://ncbi.nlm.nih.gov/pubmed/26130895
Tagiau: Ychwanegu Tag
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