A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

A 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging (MRI) showed atrophy of the brain parenchyma. One the second occasion, the patient suffered...

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Detalles Bibliográficos
Autores principales: Ishikawa, Ruoyi, Sugimoto, Takamichi, Abe, Takafumi, Ohno, Narumi, Tazuma, Taku, Giga, Mayumi, Naito, Hiroyuki, Kono, Tomoyuki, Nomura, Eiichi, Hara, Keiichi, Yorifuji, Tohru, Yamawaki, Takemori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152872/
https://www.ncbi.nlm.nih.gov/pubmed/34670888
http://dx.doi.org/10.2169/internalmedicine.7961-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152872/
https://www.ncbi.nlm.nih.gov/pubmed/34670888
http://dx.doi.org/10.2169/internalmedicine.7961-21

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