Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
Christoph Freyer, Henrik Stranneheim, Karin Naess, Arnaud Mourier, Andrea Felser, Camilla Maffezzini, Nicole Lesko, Helene Bruhn, Martin Engvall, Rolf Wibom, Michela Barbaro, Yvonne Hinze, Måns Magnusson, Robin Andeer, Rolf H Zetterström, Ulrika von Döbeln, Anna Wredenberg, Anna Wedell
Journal of Medical Genetics Nov 2015, 52 (11) 779-783; DOI: 10.1136/jmedgenet-2015-102986