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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
Clinical Case Reports 2018 October
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.
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