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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

ABSTRACT: 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.

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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