Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH.
|
31392824 |
2019 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
To report mutations in ETFA, ETFB and ETFDH genes identified in Portuguese patients, correlating, whenever possible, biochemical and clinical outcomes with the effects of mutations on the structure and stability of the affected proteins, to better understand MADD pathogenesis at the molecular level.
|
31418342 |
2019 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
A novel ETFB mutation in a patient with glutaric aciduria type II.
|
27081516 |
2015 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity.
|
25416781 |
2015 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel ETFB mutation in a patient with glutaric aciduria type II.
|
27081516 |
2015 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations.
|
22190129 |
2012 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
BEFREE |
Mutations in the electron tranferring fravoprotein genes (ETFA/ETFB) and its dehydrogenase (ETFDH) are causative for multiple acyl-CoA dehydrogenase deficiency.
|
22231380 |
2012 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) or glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA (OMIM 608053), electron transfer flavoprotein beta-subunit, ETFB (OMIM 130410) and electron transfer flavoprotein dehydrogenase, ETFDH (OMIM 231675).
|
19265687 |
2009 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
|
18289905 |
2008 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Electron transfer flavoprotein deficiency: functional and molecular aspects.
|
16510302 |
2006 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain Acyl-CoA dehydrogenase complex.
|
15159392 |
2004 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Late-onset form of beta-electron transfer flavoprotein deficiency.
|
12706375 |
2003 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
UNIPROT |
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
|
12815589 |
2003 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
|
12815589 |
2003 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
GeneticVariation
|
disease |
UNIPROT |
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
|
7912128 |
1994 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
|
7912128 |
1994 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CLINGEN |
cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein.
|
8504797 |
1993 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
CTD_human |
|
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
GLUTARIC ACIDEMIA IIB
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
GLUTARIC ACIDEMIA IIB
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
GLUTARIC ACIDEMIA IIB
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Erythrocyte Mean Corpuscular Hemoglobin Test
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |