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Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova, Stella; Magner, Martin; Kucerova-Vidrova, Vendula; Vondrackova, Alzbeta; Stranecky, Viktor; Pristoupilova, Anna; Zamecnik, Josef; Hansikova, Hana; Zeman, Jiri; Tesarova, Marketa; Honzik, Tomas.
Afiliação
  • Mazurova S; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Magner M; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Kucerova-Vidrova V; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Vondrackova A; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Stranecky V; 2Institute of Inherited Metabolic Disorders, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Pristoupilova A; 2Institute of Inherited Metabolic Disorders, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Zamecnik J; 3Department of Pathology and Molecular Medicine,Charles University in Prague,Second Medical Faculty and University Hospital Motol in Prague,Prague,Czech Republic.
  • Hansikova H; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Zeman J; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Tesarova M; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
  • Honzik T; 1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.
Cardiol Young ; 27(5): 936-944, 2017 Jul.
Article em En | MEDLINE | ID: mdl-27839525
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Timidina Quinase / Cardiomiopatia Hipertrófica / DNA Mitocondrial / Alanina-tRNA Ligase / Substância Branca Limite: Female / Humans / Infant / Newborn Idioma: En Revista: Cardiol Young Assunto da revista: ANGIOLOGIA / CARDIOLOGIA / PEDIATRIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: República Tcheca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Timidina Quinase / Cardiomiopatia Hipertrófica / DNA Mitocondrial / Alanina-tRNA Ligase / Substância Branca Limite: Female / Humans / Infant / Newborn Idioma: En Revista: Cardiol Young Assunto da revista: ANGIOLOGIA / CARDIOLOGIA / PEDIATRIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: República Tcheca