ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Author:

Liang Wen-Chen,Ohkuma Aya,Hayashi Yukiko K.,López Luis Carlos,Hirano Michio,Nonaka Ikuya,Noguchi Satoru,Chen Liang-Hui,Jong Yuh-Jyh,Nishino Ichizo

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference28 articles.

1. Defects of electron transfer flavoprotein and electron transfer flavoprotein–ubiquinone oxidoreductase: glutaric acidemia type II;Frerman,2001

2. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase;Di Donato;Neurology,1986

3. Risk of sudden death and acute life-threatening events in patients with glutaric academia type II;Angle;Mol Genet Metab,2008

4. Riboflavin responsive glutaric aciduria type II;Gregersen;Prog Clin Biol Res,1990

5. Riboflavin therapy: biochemical heterogeneity in two adult lipid storage myopathies;Vergani;Brain,1999

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