Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical staining demonstrated cells labeled with VIM (+), CD68PGM1 (+), CD34 (-), Actin (-), PCK (-), EMA (-), Desmin (-), SMA (-), S-100 (-), P63 (-), ALK-1 (-), beta-catenia (+), and KI67 (+).
|
31169683 |
2019 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
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
|
0.790 |
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
|
0.790 |
Biomarker
|
disease |
BEFREE |
Dechelation (Transmetalation): Consequences and Safety Concerns With the Linear Gadolinium-Based Contrast Agents, In View of Recent Health Care Rulings by the EMA (Europe), FDA (United States), and PMDA (Japan).
|
30130320 |
2018 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
BEFREE |
The NK<sub>1</sub>-receptor antagonists netupitant (300 mg given in combination with palonosetron 0.5 mg as NEPA) and rolapitant have both completed phase II and III programs and were approved by FDA (both) and EMA (NEPA) in 2014-2015.
|
27443154 |
2017 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
|
26409463 |
2016 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We report a novel zebrafish mutant dark xavier (dxa(vu463) ) that has an inactivating mutation in the etfa gene. dxa(vu463) recapitulates numerous pathological and biochemical features seen in patients with MADD including brain, liver, and kidney disease.
|
23785301 |
2013 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CLINGEN |
We report a novel zebrafish mutant dark xavier (dxa(vu463) ) that has an inactivating mutation in the etfa gene. dxa(vu463) recapitulates numerous pathological and biochemical features seen in patients with MADD including brain, liver, and kidney disease.
|
23785301 |
2013 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
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
|
0.790 |
Biomarker
|
disease |
BEFREE |
Our report shows that some cases of MADD are not linked to ETFA, ETFB and ETFDH exon or intron-exon boundary changes.
|
22190129 |
2012 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
|
20023066 |
2010 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
|
20736750 |
2010 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
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
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
|
18289905 |
2008 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Electron transfer flavoprotein deficiency: functional and molecular aspects.
|
16510302 |
2006 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
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
|
0.790 |
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
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
|
12815589 |
2003 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
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
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
|
9334218 |
1997 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
|
9334218 |
1997 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
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.
|
1430199 |
1992 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
1430199 |
1992 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.790 |
Biomarker
|
disease |
CLINGEN |
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.
|
1430199 |
1992 |