GA2/MADD Studies

1. P-14 Multiple acyl-coa dehydrogenase deficiency: a possibly treatable condition
2. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
3. Glutaric acidemia type II: comparison of pathologic features in two infants.
4. Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaricacidemia type II.
5. Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
6. Glutaric acidemia type II: heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha-subunit of electron transfer flavoprotein in eight patients
7. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
8. C(6)-C(10)-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. 
9. Coenzyme Q10 deficiency and isolated myopathy.
10. ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
11. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect
12. High resolution melting analysis facilitates mutation screening ofETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
13. Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency
14. New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD)
15. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
16. Exercise training in mitochondrial myopathy: a randomized controlled trial.
17.