Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, S. E. Olpin, Brage Storstein Andresen et al. · Brain · 2007 · 328 citations

Life Sciences, Biochemistry, Molecular Genetics +15

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel, Haluk Topaloğlu, Beril Talim et al. · Brain · 2007 · 319 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Coenzyme Q10 deficiency and isolated myopathy

Rita Horváth, Peter Schneiderat, Benedikt Schoser et al. · Neurology · 2006 · 117 citations

Medicine, Biochemistry, Biochemical Genetics +15

Electron transfer flavoprotein deficiency: Functional and molecular aspects

Manuel Schiff, Roseline Froissart, Rikke Katrine Jentoft Olsen et al. · Molecular Genetics and Metabolism · 2006 · 106 citations

Life Sciences, Biochemistry, Enzymology +13