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Items: 1 to 20 of 201

1.

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.

Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM.

Neurology. 1994 Mar;44(3 Pt 1):467-73.

PMID:
8145917
2.

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

Treem WR, Witzleben CA, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB.

Hepatology. 1986 Nov-Dec;6(6):1270-8.

PMID:
3793003
3.

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA.

Hum Mol Genet. 2001 Sep 15;10(19):2069-77.

4.

A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Hisahara S, Matsushita T, Furuyama H, Tajima G, Shigematsu Y, Imai T, Shimohama S.

Tohoku J Exp Med. 2015;235(4):305-10. doi: 10.1620/tjem.235.305.

5.

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

Kler RS, Jackson S, Bartlett K, Bindoff LA, Eaton S, Pourfarzam M, Frerman FE, Goodman SI, Watmough NJ, Turnbull DM.

J Biol Chem. 1991 Dec 5;266(34):22932-8.

6.

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.

Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto T.

Biochem Biophys Res Commun. 1993 Mar 31;191(3):1369-72.

PMID:
8466512
7.

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, Roe C.

Clin Chim Acta. 1998 Jan 12;269(1):43-62.

PMID:
9498103
8.

Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase.

McAndrew RP, Wang Y, Mohsen AW, He M, Vockley J, Kim JJ.

J Biol Chem. 2008 Apr 4;283(14):9435-43. doi: 10.1074/jbc.M709135200. Epub 2008 Jan 28.

10.

Combined enzyme defect of mitochondrial fatty acid oxidation.

Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnbull DM.

J Clin Invest. 1992 Oct;90(4):1219-25.

11.

Complementation analysis of fatty acid oxidation disorders.

Moon A, Rhead WJ.

J Clin Invest. 1987 Jan;79(1):59-64.

12.

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J.

Am J Hum Genet. 2007 Jul;81(1):87-103. Epub 2007 Jun 4.

13.

Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U.

Pediatrics. 2006 Sep;118(3):1065-9.

PMID:
16950999
14.

Long-chain acyl-CoA profiles in cultured fibroblasts from patients with defects in fatty acid oxidation.

Tamvakopoulos CS, Willi S, Anderson VE, Hale DE.

Biochem Mol Med. 1995 Jun;55(1):15-21.

PMID:
7551821
15.

Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA.

Battaile KP, McBurney M, Van Veldhoven PP, Vockley J.

Biochim Biophys Acta. 1998 Feb 23;1390(3):333-8.

PMID:
9487154
16.

The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

Voermans NC, Poels PJ, Kluijtmans LA, van Engelen BG.

Neuromuscul Disord. 2005 Dec;15(12):844-6. Epub 2005 Nov 8.

PMID:
16288870
17.
18.

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.

Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, Ursino E, DiDonato S.

Neurology. 1994 Nov;44(11):2153-8.

PMID:
7969976
19.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C.

Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26.

PMID:
19327992
20.

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T.

J Clin Invest. 1995 Jun;95(6):2465-73.

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