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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Authors

  • Christoph Freyer 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 PubMed articlesGoogle scholar articles
  • Henrik Stranneheim Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Karin Naess Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Arnaud Mourier Max Planck Institute for Biology of Ageing, Cologne, Germany PubMed articlesGoogle scholar articles
  • Andrea Felser Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Camilla Maffezzini Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Nicole Lesko Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Helene Bruhn Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Martin Engvall Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Rolf Wibom Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Michela Barbaro Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Yvonne Hinze Max Planck Institute for Biology of Ageing, Cologne, Germany PubMed articlesGoogle scholar articles
  • Måns Magnusson Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Robin Andeer Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Rolf H Zetterström Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Ulrika von Döbeln Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Anna Wredenberg 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 PubMed articlesGoogle scholar articles
  • Anna Wedell 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 Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Anna Wredenberg, Division for Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden; anna.wredenberg{at}ki.se, and Prof. Anna Wedell, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; anna.wedell{at}ki.se
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Citation

Freyer C, Stranneheim H, Naess K, et al
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Publication history

  • Received January 15, 2015
  • Revised April 28, 2015
  • Accepted May 26, 2015
  • First published June 17, 2015.
Online issue publication 
October 22, 2015

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