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A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith, Amanda C; Ito, Yoko; Ahmed, Afsana; Schwartzentruber, Jeremy A; Beaulieu, Chandree L; Aberg, Erika; Majewski, Jacek; Bulman, Dennis E; Horsting-Wethly, Karina; Koning, Diana Vermunt-de; Rodenburg, Richard J; Boycott, Kym M; Penney, Lynette S.
Afiliação
  • Smith AC; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Ito Y; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Ahmed A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Schwartzentruber JA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Beaulieu CL; McGill University and Genome Quebec Innovation Centre, Montréal, QC, Canada.
  • Aberg E; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Majewski J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Bulman DE; Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.
  • Horsting-Wethly K; McGill University and Genome Quebec Innovation Centre, Montréal, QC, Canada.
  • Koning DV; Department of Human Genetics, McGill University, Montréal, QC, Canada.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Boycott KM; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 41(4): 719-729, 2018 07.
Article em En | MEDLINE | ID: mdl-29560582
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Doença de Leigh / Ubiquinona / Debilidade Muscular / Doenças Mitocondriais / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Doença de Leigh / Ubiquinona / Debilidade Muscular / Doenças Mitocondriais / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos