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ETFDH gene

Known as: ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE, ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE, ETFQO 
National Institutes of Health

Related topics

Related topics

1 relation
electron-transferring-flavoprotein dehydrogenase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of… 
2020
2020
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Abstract Background: Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD… 
2019
2019
Title Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy : a case report
Background: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical… 
2016
2016
Cloning, Expression and Purification of the Antimicrobial Targets EtfB and EtfDh of Burkholderia cenocepacia
Burkholderia cenocepacia is a pathogenic bacterium that causes life-threatening infections in cystic fibrosis patients (Shommu… 
2014
2014
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
  • Jun LuLijuan Ji
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
  • 2014
  • Corpus ID: 22975726
OBJECTIVE To identify pathogenic mutation in a boy affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency… 
2014
2014
Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase…
2013
2013
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
2011
2011
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif
BackgroundMultiple acyl-coenzyme A dehydrogenase deficiency (MADD) is an autosomal recessive disease caused by the defects in the… 
2011
2011
Clinical features and electron transfer flavoprotein dehydrogenase gene mutation analysis in 35 Chinese patients with lipid storage myopathy
Objective To investigate the clinical features and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations in 35… 
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