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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer, Christoph; Stranneheim, Henrik; Naess, Karin; Mourier, Arnaud; Felser, Andrea; Maffezzini, Camilla; Lesko, Nicole; Bruhn, Helene; Engvall, Martin; Wibom, Rolf; Barbaro, Michela; Hinze, Yvonne; Magnusson, Måns; Andeer, Robin; Zetterström, Rolf H; von Döbeln, Ulrika; Wredenberg, Anna; Wedell, Anna.
  • Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Stranneheim H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Mourier A; Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Felser A; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Maffezzini C; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Lesko N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Bruhn H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Wibom R; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Barbaro M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Hinze Y; Max Planck Institute for Biology of Ageing, Cologne, Germany.
  • Magnusson M; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Andeer R; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Zetterström RH; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • von Döbeln U; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden Department of Molecular Me
J Med Genet ; 52(11): 779-83, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26084283
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Mutación Missense / Enfermedades Mitocondriales / Hidroxibenzoatos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Humans / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Mutación Missense / Enfermedades Mitocondriales / Hidroxibenzoatos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Humans / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article