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Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Herebian, Diran; Seibt, Annette; Smits, Sander H J; Bünning, Gisela; Freyer, Christoph; Prokisch, Holger; Karall, Daniela; Wredenberg, Anna; Wedell, Anna; López, Luis C; Mayatepek, Ertan; Distelmaier, Felix.
Afiliación
  • Herebian D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Smits SHJ; Institute of Biochemistry, Heinrich-Heine-University, Universitätsstr.1, 40225 Düsseldorf, Germany.
  • Bünning G; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • 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.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • 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
  • López LC; Departmento de Fisiología, Facultad de Medicina and Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Spain.
  • Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address: Felix.distelmaier@med.uni-duesseldorf.de.
Mol Genet Metab ; 121(3): 216-223, 2017 07.
Article en En | MEDLINE | ID: mdl-28552678
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Enfermedades Mitocondriales Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Alemania
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Enfermedades Mitocondriales Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Alemania