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Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC de...

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Autors principals: Choi, Dae Eun, Lee, Kang Wook, Shin, Young Tai, Na, Ki Ryang
Format: Artigo
Idioma:Inglês
Publicat: The Korean Academy of Medical Sciences 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3342550/
https://ncbi.nlm.nih.gov/pubmed/22563224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2012.27.5.556
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