Electron transfer flavoprotein (ETF) is an enzyme with orthologs from bacteria to humans.
Human ETF is nuclear encoded by two separate genes, ETFA and ETFB, respectively. After …

Inborn errors of Riboflavin (Rf) transport and metabolism have been recently related to
severe human neuromuscular disorders, as resulting in profound alteration of human …

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of
fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or …

The interference of the expression of each of the genes involved in the synthesis of
coenzyme Q (CoQ) in Drosophila melanogaster can help to understand the pathophysiology …

Objective Riboflavin‐responsive multiple acyl–coenzyme A dehydrogenation deficiency (RR‐
MADD) is an inherited fatty acid metabolism disorder mainly caused by genetic defects in …

In the past few decades, improved early diagnosis methods, technological developments
and an increasing crosstalk between clinicians and researchers has led to the identification …

The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase
(ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified …

Multiple-CoA dehydrogenase deficiency (MADD) is an inborn disorder of fatty acid and
amino acid metabolism caused by mutations in the genes encoding for human electron …

Background: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare
metabolic disease with broad clinical phenotypes and variable evolution. This inborn error of …

PTEN-induced putative kinase 1 (PINK1) is a mitochondria-targeted kinase whose mutations
are a cause of Parkinson's disease. We set out to better understand PINK1's effects on …