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Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.
Wu, Miaojuan; Gao, Wenqi; Deng, Zhifang; Liu, Zhisheng; Ma, Jiehui; Xiao, Han; Xu, Yu; Sun, Dan.
Afiliación
  • Wu M; Jianghan University, Wuhan, Hubei, China.
  • Gao W; Institute of Maternal and Child Health, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China.
  • Deng Z; Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China.
  • Liu Z; Department of Pediatric Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China.
  • Ma J; Department of Pediatric Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China.
  • Xiao H; Institute of Maternal and Child Health, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China.
  • Xu Y; Department of Nosocomial Infection, Wuhan Children's Hospital, Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China.
  • Sun D; Department of Pediatric Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University&Technology, Wuhan, Hubei, China. bloveriver@163.com.
BMC Neurol ; 20(1): 165, 2020 Apr 30.
Article en En | MEDLINE | ID: mdl-32354323
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Encefalomiopatías Mitocondriales / Enoil-CoA Hidratasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Encefalomiopatías Mitocondriales / Enoil-CoA Hidratasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China