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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2021
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Materias: | |
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 |
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