Silico analysis of a novel mutation c.550delT in a Chinese patient with 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 mapl...

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Detalles Bibliográficos
Autores principales: Li, Wenjie, Meng, Xianze, Wang, Weiqing, Lv, Jinfeng, Sun, Yingmei, Lv, Yanan, Wang, Caijuan, Wang, Hongqin, Wang, Mei, Song, Dongpo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186878/
https://www.ncbi.nlm.nih.gov/pubmed/30349713
http://dx.doi.org/10.1002/ccr3.1774
Descripción
Sumario: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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