Two unrelated adult males, aged 36 (patient 1) and 25 (patient 2) years, presented with
subacute carnitine-deficient lipid storage myopathy that was totally and partly responsive to …

Riboflavin and ubiquinone (Coenzyme Q 10, CoQ 10) deficiencies are heterogeneous
groups of autosomal recessive conditions affecting both children and adults. Riboflavin …

The key reaction in the β-oxidation of fatty acids is the acyl-CoA dehydrogenation, catalyzed
by short chain, medium chain, and long chain acyl-CoA dehydrogenases. Acyl-CoA …

The role of riboflavin in cell maintenance and growth, and the mechanism by which it is
absorbed into various human tissues and cell lines has been extensively studied over the …

In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype
of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance …

Transport of riboflavin (RF) across both the brush border membrane (BBM) and basolateral
membrane (BLM) of the polarized enterocyte occurs via specific carrier-mediated …

(FMOJ disrriazimtt~ 6etzueet7 esserdial arrd forcigr7 co777por777ds hy exchdir7g tI7e
fomer rntlrer th777 sclectioely birrdir7g the latter. As Daniel Ziegler de-scribes here …

Flavoprotein reductases play a key role in electron transfer in many physiological processes.
We have isolated a cDNA with strong sequence similarities to cytochrome P-450 reductase …

Mutations in the genes encoding the α-subunit and β-subunit of the mitochondrial electron
transfer flavoprotein (ETF) and the electron transfer flavoprotein: ubiquinone oxidoreductase …

Riboflavin-responsive forms of multiple acyl-CoA dehydrogenation deficiency (RR-MADD)
have been known for years, but with presumed defects in the formation of the flavin adenine …