Format
Sort by
Items per page

Send to

Choose Destination

Links from OMIM

Items: 17

1.

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, Mandel H, Fukao T, Ruiter JP, Wanders RJ, McAndrew R, Kim JJ, Bastin J.

Am J Hum Genet. 2007 Dec;81(6):1133-43. Epub 2007 Oct 29.

2.

Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95.

Zhang LF, Ding JH, Yang BZ, He GC, Roe C.

Genomics. 2003 Dec;82(6):660-8.

PMID:
14611808
3.

Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.

Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW.

Circ Res. 2003 Sep 5;93(5):448-55. Epub 2003 Jul 31.

PMID:
12893739
4.

Overlapping gene structure of human VLCAD and DLG4.

Zhou C, Blumberg B.

Gene. 2003 Feb 27;305(2):161-6.

PMID:
12609736
5.

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.

PMID:
11590124
6.

Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.

Fukao T, Watanabe H, Orii K, Takahashi Y, Hirano A, Kondo T, Yamaguchi S, Aoyama T, Kondo N.

Pediatr Res. 2001 Feb;49(2):227-31.

PMID:
11158518
8.

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW.

Circulation. 1999 Mar 16;99(10):1337-43.

PMID:
10077518
9.

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson MS.

J Pediatr. 1998 Aug;133(2):247-53.

PMID:
9709714
10.

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

Smelt AH, Poorthuis BJ, Onkenhout W, Scholte HR, Andresen BS, van Duinen SG, Gregersen N, Wintzen AR.

Ann Neurol. 1998 Apr;43(4):540-4.

PMID:
9546340
11.

Assignment of the gene for very-long-chain acyl-CoA dehydrogenase (Acadvl) to mouse chromosome band 11B2-B5 by in situ hybridization.

Orii KO, Saito-Ohara F, Ikeuchi T, Orii T, Kondo N, Aoyama T, Hashimoto T.

Cytogenet Cell Genet. 1997;78(1):25-6. No abstract available.

PMID:
9345900
12.

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N.

Hum Mol Genet. 1996 Apr;5(4):461-72. Erratum in: Hum Mol Genet 1996 Sep;5(9):1390.

PMID:
8845838
14.

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.

15.

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.

Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, Hashimoto T.

Am J Hum Genet. 1995 Aug;57(2):273-83.

16.

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF.

Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10496-500.

17.

Supplemental Content

Support Center