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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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Detalles Bibliográficos
Autores principales: Choi, Dae Eun, Lee, Kang Wook, Shin, Young Tai, Na, Ki Ryang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342550/
https://www.ncbi.nlm.nih.gov/pubmed/22563224
http://dx.doi.org/10.3346/jkms.2012.27.5.556