Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Saved in:
| Title: | Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. |
|---|---|
| Authors: | 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.; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Fu S; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China., Fu X; Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, China., Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Han X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Li L; National Institute of Biological Sciences, Beijing, China., Song T; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Xu M; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Liu S; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China., Wang J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Albash B; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Alaqeel A; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Catalina V; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 264-277. Date of Electronic Publication: 2022 Jan 08. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1573-2665 |
|---|---|
| DOI: | 10.1002/jimd.12462 |
