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The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne, James J; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K; Freisinger, Peter; Garber, Ian; Haack, Tobias B; Horvath, Rita; Baric, Ivo; Husain, Ralf A; Kluijtmans, Leo A J; Kotzaeridou, Urania; Morris, Andrew A; Ross, Colin J; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B; Mayr, Johannes A; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W; Wevers, Ron A; Engelke, Udo F; Rodenburg, Richard J; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W; Salvarinova, Ramona; van Karnebeek, Clara D M.
Afiliación
  • O'Byrne JJ; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Tarailo-Graovac M; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Institute of Physiology and Biochemistry, Faculty of
  • Ghani A; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Champion M; Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London, UK.
  • Deshpande C; Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London, UK.
  • Dursun A; Hacettepe University, Faculty of Medicine, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey.
  • Ozgul RK; Hacettepe University, Faculty of Medicine, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey.
  • Freisinger P; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany.
  • Garber I; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Haack TB; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Horvath R; John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Baric I; University Hospital Center Zagreb & School of Medicine, University of Zagreb, Croatia.
  • Husain RA; Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
  • Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kotzaeridou U; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Morris AA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Ross CJ; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.
  • Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
  • Smeitink J; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Tarnopolsky M; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada.
  • Wortmann SB; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Salzburg, Austria.
  • Mayr JA; Department of Pediatrics, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Salzburg, Austria.
  • Brunner-Krainz M; Department of Pediatrics, Medical University Graz, Graz, Austria.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Wasserman WW; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Engelke UF; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ting TW; Genetics Service, Department of Pediatrics, KK Women's and Children's Hospital, Singapore.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Un
  • van Karnebeek CDM; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Acade
Mol Genet Metab ; 123(1): 28-42, 2018 01.
Article en En | MEDLINE | ID: mdl-29331171
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Texto completo: 1 Colección: 01-internacional Asunto principal: Cardiomiopatía Hipertrófica / Proteínas Portadoras / Encefalopatía Hepática / Enfermedades Mitocondriales / Errores Innatos del Metabolismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Asunto principal: Cardiomiopatía Hipertrófica / Proteínas Portadoras / Encefalopatía Hepática / Enfermedades Mitocondriales / Errores Innatos del Metabolismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Canadá