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

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Identification of an FAD Superfamily Containing Protoporphyrinogen Oxidases, Monoamine Oxidases, and Phytoene Desaturase1998 · 76 citations
2. 2Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin‐responsive, multiple acyl‐CoA dehydrogenase deficiency patient2006 · 58 citations
3. 3Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency2003 · 238 citations
4. 4Quantification of muscle mitochondrial oxidative phosphorylation enzymes <i>via</i> histochemical staining of blue native polyacrylamide gels1997 · 291 citations
5. 5Flavinylation of the precursor of mitochondrial dimethylglycine dehydrogenase by intact and solubilised mitochondria2002 · 15 citations