Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an autosomal recessive lipid storage myopathy (LSM) tha...

Source: Lipids in Health and Disease - November 13, 2018 Category: Lipidology Authors: Sara Missaglia, Daniela Tavian, Laura Moro and Corrado Angelini Tags: Short report Source Type: research