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Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Chen, Wenqian; Rehsi, Preeya; Thompson, Kyle; Yeo, Mildrid; Stals, Karen; He, Langping; Schimmel, Paul; Chrzanowska-Lightowlers, Zofia M A; Wakeling, Emma; Taylor, Robert W; Kuhle, Bernhard.
Affiliation
  • Chen W; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA.
  • Rehsi P; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
  • Yeo M; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Stals K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastl
  • Schimmel P; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA; The Scripps Florida Research Institute at the University of Florida, Jupiter, FL 33458, USA.
  • Chrzanowska-Lightowlers ZMA; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
  • Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastl
  • Kuhle B; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen 37073, Germany. Electronic address: bernhard.kuhle@med.uni-goettingen.de.
Mol Genet Metab ; 140(3): 107657, 2023 11.
Article in En | MEDLINE | ID: mdl-37523899
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine-tRNA Ligase / Mitochondrial Diseases / Epilepsy Limits: Humans / Infant / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine-tRNA Ligase / Mitochondrial Diseases / Epilepsy Limits: Humans / Infant / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Document type: Article Affiliation country: