Condition: Multiple Acyl Coenzyme A Dehydrogenase Deficiency


rs119458970 in ETFA gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 26409463 2016 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

PMID 1430199 1992 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.

PMID 9334218 1997 Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

rs104894677 in ETFB gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 7912128 1994 Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

rs121964954 in ETFDH gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 24357026 2014 Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

PMID 19249206 2009 ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 27935074 2017 Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD.

PMID 27000805 2016 Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

PMID 27270537 2016 Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.

PMID 22013910 2011 High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr) from a patient with MADD.

PMID 20370797 2010 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.

PMID 12359134 2003 Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

PMID 16527485 2006 So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

PMID 21088898 2010 Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

PMID 22664151 2012 Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

PMID 18289905 2008 Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.

PMID 17584774 2007 ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

PMID 24190796 2014 Newborn Screening for Glutaric Aciduria-II: The New England Experience.

PMID 22611163 2012 Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

PMID 26403312 2016 Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.

PMID 27038534 2016 Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

PMID 23727839 2013 Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

PMID 16510302 2006 Electron transfer flavoprotein deficiency: functional and molecular aspects.

PMID 23785301 2013 Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.

PMID 21907580 2012 Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase.

PMID 23628458 2013 Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.

PMID 24522293 2014 Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

rs876661309 in FLAD1 gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 27259049 2016 Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

rs771466122 in FLAD1;LENEP gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 27259049 2016 Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.