Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
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ABSTRACT:
SUBMITTER: Li W
PROVIDER: S-EPMC6186878 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
Li Wenjie W Meng Xianze X Wang Weiqing W Lv Jinfeng J Sun Yingmei Y Lv Yanan Y Wang Caijuan C Wang Hongqin H Wang Mei M Song Dongpo D
Clinical case reports 20180903 10
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. ...[more]
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