Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency

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

Aberrant Schwann Cell Lipid Metabolism Linked to Mitochondrial Deficits Leads to Axon Degeneration and Neuropathy

Andreu Viader, Yo Sasaki, Sung‐Su Kim et al. · Neuron · 2013 · 270 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, Brage Storstein Andresen, Ernst Christensen et al. · Human Mutation · 2003 · 234 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Sarah C. Grünert · Orphanet Journal of Rare Diseases · 2014 · 204 citations · Full text

Life Sciences, Biochemistry, Biochemical Genetics +16