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Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen, Bing; Tang, Shuyao; Lv, Xiaoqing; Li, Duoling; Xu, Jingwen; Olsen, Rikke Katrine Jentoft; Zhao, Yuying; Li, Wei; Wang, Tan; Shao, Kai; Zhao, Dandan; Yan, Chuanzhu.
Afiliación
  • Wen B; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Tang S; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Lv X; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Li D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Xu J; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Olsen RKJ; Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus N 8200, Denmark.
  • Zhao Y; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Li W; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Wang T; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Shao K; Department of Central Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao 266035, China.
  • Zhao D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
  • Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
Hum Mol Genet ; 31(7): 1115-1129, 2022 03 31.
Article en En | MEDLINE | ID: mdl-34718578

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa / Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH / Proteínas Hierro-Azufre Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa / Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH / Proteínas Hierro-Azufre Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China