1. Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
- Author
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Li, Wenjie, Meng, Xianze, Wang, Weiqing, Lv, Jinfeng, Sun, Yingmei, Lv, Yanan, Wang, Caijuan, Wang, Hongqin, Wang, Mei, and Song, Dongpo
- Subjects
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GENETIC mutation , *MAPLE syrup urine disease , *HOSPITAL admission & discharge , *MECHANICAL ventilators , *DIAGNOSIS of brain diseases - Abstract
Key Clinical Message: Twelve days after birth, the child was admitted to hospital because of "poor response, lethargy, and poor appetite for 6 days" and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease. Twelve days after birth, the child was admitted to hospital because of "poor response, lethargy, and poor appetite for 6 days" and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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