Citations for
1ETFA, ETFB, ETFDH
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Angle B, Burton BK.
Mol Genet Metab 93(1):36-9. Epub 2007 Oct 31. 2008
2ETFA, ETFB, ETFDH
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S.
Mol Genet Metab 94(1):61-7. Epub 2008 Mar 4. 2008
3ETFA, ETFB, ETFDH, GCDH, GLUTA1
Glutaric acidemia type 1.
Hedlund GL, Longo N, Pasquali M.
Am J Med Genet C Semin Med Genet 142(2):86-94. Review. 2006
4ETFA, ETFB
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.
Mol Genet Metab 88(2):153-8. Epub 2006 Feb 28. 2006
5SLC25A36, SLC25A32, SLC25A17, ETFA, ETFDH, FLAD1
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Spaan AN, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ, Waterham HR.
Mol Genet Metab 86(4):441-7. Epub 2005 Sep 13. 2005
6ETFA, ETFB
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.
Hum Mutat 22(1):12-23. 2003
7ETFA
Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
Salazar D, Zhang L, deGala GD, Frerman FE.
J Biol Chem 272(42):26425-33. 1997
8ETFA
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.
Freneaux E, et al.
J Clin Invest 90 : 1679-1686. 1992
9ETFA
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.
Indo Y, et al.
Am J Hum Genet 49 : 575-580. 1991
10ACADS, ETFA
Short chain acyl-CoA dehydrogenase (ACADS) maps to chromosomes 12 (q22-qter) and electron transfer flavoprotein (ETFA) to 15(q23-q25).
Barton DE, et al.
(HGM9) Cytogenet Cell Genet 46 : 577. 1987
11ETFA
Biosynthesis and mitochondrial processing of electron transfer flavoprotein : a defect in the alpha-subunit synthesis is a primary lesion in glutaric aciduria type II.
Ikeda Y, et al.
J Clin Invest 78 : 997-1002. 1986
12ETFA
Deficiency of electron transfer flavoprotein or electron transfer flavoprotein : ubiquinone oxidoreductase in glutaric acidemia type II fibroblats.
Frerman RE, et al.
Proc Natl Acad Sci U S A 82 : 4517-4520. 1985
13ETFA
Multiple acyl Co-A dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria: possible inherited deficiency of an electron transfer flavoprotein.
Goodman SI, et al.
Pediatr Res 14 : 12-17. 1980
14ETFA
Glutaric aciduria type II: report on a previously undescribed metabolic disorder.
Przyrembel H, et al.
Clin Chim Acta 66 : 227-239. 1976