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Items: 12

1.

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

Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA.

Brain. 2007 Aug;130(Pt 8):2045-54. Epub 2007 Jun 20.

PMID:
17584774
2.

Riboflavin-responsive defects of beta-oxidation.

Gregersen N.

J Inherit Metab Dis. 1985;8 Suppl 1:65-9. Review.

PMID:
3930843
3.

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

Zhu M, Zhu X, Qi X, Weijiang D, Yu Y, Wan H, Hong D.

J Hum Genet. 2014 May;59(5):256-61. doi: 10.1038/jhg.2014.10. Epub 2014 Feb 13. Review.

PMID:
24522293
4.

The electron transfer flavoprotein: ubiquinone oxidoreductases.

Watmough NJ, Frerman FE.

Biochim Biophys Acta. 2010 Dec;1797(12):1910-6. doi: 10.1016/j.bbabio.2010.10.007. Epub 2010 Oct 16. Review.

5.

The inborn errors of mitochondrial fatty acid oxidation.

Vianey-Liaud C, Divry P, Gregersen N, Mathieu M.

J Inherit Metab Dis. 1987;10 Suppl 1:159-200. Review.

PMID:
3119938
6.

Defects of fatty-acid oxidation in muscle.

Angelini C.

Baillieres Clin Endocrinol Metab. 1990 Sep;4(3):561-82. Review.

PMID:
2268228
7.

Spectrum of metabolic myopathies.

Angelini C.

Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Review.

9.

Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase.

Frerman FE.

Biochem Soc Trans. 1988 Jun;16(3):416-8. Review. No abstract available.

PMID:
3053288
10.

Dynamics driving function: new insights from electron transferring flavoproteins and partner complexes.

Toogood HS, Leys D, Scrutton NS.

FEBS J. 2007 Nov;274(21):5481-504. Epub 2007 Oct 17. Review.

11.

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

Horvath R.

J Inherit Metab Dis. 2012 Jul;35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. Review.

PMID:
22231380
12.

Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.

Angelini C, Vergani L, Martinuzzi A.

Crit Rev Clin Lab Sci. 1992;29(3-4):217-42. Review.

PMID:
1489518

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