Your browser doesn't support javascript.
loading
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Jiang, Huafang; Alahmad, Ahmad; Fu, Song; Fu, Xiaoling; Liu, Zhimei; Han, Xiaodi; Li, Lanlan; Song, Tianyu; Xu, Manting; Liu, Shanshan; Wang, Junling; Albash, Buthaina; Alaqeel, Ahmad; Catalina, Vasilescu; Prokisch, Holger; Taylor, Robert W; McFarland, Robert; Fang, Fang.
Afiliación
  • Jiang H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Alahmad A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Fu S; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.
  • Fu X; Graduate School of Peking Union Medical College, Beijing, China.
  • Liu Z; National Institute of Biological Sciences, Beijing, China.
  • Han X; Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, China.
  • Li L; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Song T; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Xu M; National Institute of Biological Sciences, Beijing, China.
  • Liu S; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Wang J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Albash B; Graduate School of Peking Union Medical College, Beijing, China.
  • Alaqeel A; National Institute of Biological Sciences, Beijing, China.
  • Catalina V; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
  • Prokisch H; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.
  • Taylor RW; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.
  • McFarland R; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Fang F; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
J Inherit Metab Dis ; 45(2): 264-277, 2022 03.
Article en En | MEDLINE | ID: mdl-34873722
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadores de Ácidos Monocarboxílicos / Proteínas de Transporte de Membrana Mitocondrial Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadores de Ácidos Monocarboxílicos / Proteínas de Transporte de Membrana Mitocondrial Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: China