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Items: 1 to 20 of 197

1.

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S.

Eur J Clin Invest. 2002 Sep;32(9):707-12.

PMID:
12486872
2.

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.

Colombo I, Finocchiaro G, Garavaglia B, Garbuglio N, Yamaguchi S, Frerman FE, Berra B, DiDonato S.

Hum Mol Genet. 1994 Mar;3(3):429-35.

PMID:
7912128
3.

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. 2003 Jul;22(1):12-23.

PMID:
12815589
4.

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

Salazar D, Zhang L, deGala GD, Frerman FE.

J Biol Chem. 1997 Oct 17;272(42):26425-33.

5.

Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).

Goodman SI, Frerman FE.

J Inherit Metab Dis. 1984;7 Suppl 1:33-7.

PMID:
6434842
6.
7.

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.

Yamaguchi S, Orii T, Suzuki Y, Maeda K, Oshima M, Hashimoto T.

Pediatr Res. 1991 Jan;29(1):60-3.

PMID:
2000260
8.

Late-onset form of beta-electron transfer flavoprotein deficiency.

Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N.

Mol Genet Metab. 2003 Apr;78(4):247-9.

PMID:
12706375
10.

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

Goodman SI, Binard RJ, Woontner MR, Frerman FE.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90.

PMID:
12359134
11.

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.

Mol Genet Metab. 2006 Jun;88(2):153-8. Epub 2006 Feb 28.

PMID:
16510302
14.

Recent progress in understanding glutaric acidemias.

Goodman SI, Frerman FE, Loehr JP.

Enzyme. 1987;38(1-4):76-9.

PMID:
3126045
15.

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.

Loehr JP, Goodman SI, Frerman FE.

Pediatr Res. 1990 Mar;27(3):311-5.

PMID:
2320399
16.

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N.

Mol Genet Metab. 1999 Jun;67(2):138-47.

PMID:
10356313
17.

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

Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE.

Neuromuscul Disord. 2006 Apr;16(4):269-73. Epub 2006 Mar 9.

PMID:
16527485
18.

Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.

Goodman SI, Bemelen KF, Frerman FE.

Prog Clin Biol Res. 1992;375:567-72. No abstract available.

PMID:
1438400
20.

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Law LK, Tang NL, Hui J, Fung SL, Ruiter J, Wanders RJ, Fok TF, Lam CW.

Clin Chim Acta. 2009 Jun 27;404(2):95-9. doi: 10.1016/j.cca.2009.02.015. Epub 2009 Mar 3.

PMID:
19265687

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