149 related articles for article (PubMed ID: 16621643)
1. In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Merritt JL; Matern D; Vockley J; Daniels J; Nguyen TV; Schowalter DB
Mol Genet Metab; 2006 Aug; 88(4):351-8. PubMed ID: 16621643
[TBL] [Abstract][Full Text] [Related]
2. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
Djouadi F; Aubey F; Schlemmer D; Ruiter JP; Wanders RJ; Strauss AW; Bastin J
Hum Mol Genet; 2005 Sep; 14(18):2695-703. PubMed ID: 16115821
[TBL] [Abstract][Full Text] [Related]
3. Characterization of the human very-long-chain acyl-CoA dehydrogenase gene promoter region: a role for activator protein 2.
Zhou Y; Kelly DP; Strauss AW; Sims H; Zhang Z
Mol Genet Metab; 1999 Dec; 68(4):481-7. PubMed ID: 10607478
[TBL] [Abstract][Full Text] [Related]
4. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.
Yamaguchi S; Indo Y; Coates PM; Hashimoto T; Tanaka K
Pediatr Res; 1993 Jul; 34(1):111-3. PubMed ID: 8356011
[TBL] [Abstract][Full Text] [Related]
5. 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 Apr; 235(4):305-10. PubMed ID: 25843429
[TBL] [Abstract][Full Text] [Related]
6. Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Merritt JL; Nguyen T; Daniels J; Matern D; Schowalter DB
Mol Ther; 2009 Mar; 17(3):425-9. PubMed ID: 19156135
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19327992
[TBL] [Abstract][Full Text] [Related]
8. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
Spiekerkoetter U; Sun B; Zytkovicz T; Wanders R; Strauss AW; Wendel U
J Pediatr; 2003 Sep; 143(3):335-42. PubMed ID: 14517516
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 7769092
[TBL] [Abstract][Full Text] [Related]
10. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 16950999
[TBL] [Abstract][Full Text] [Related]
12. In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.
Schowalter DB; Matern D; Vockley J
Mol Genet Metab; 2005 Jun; 85(2):88-95. PubMed ID: 15896652
[TBL] [Abstract][Full Text] [Related]
13. Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
Watanabe H; Orii KE; Fukao T; Song XQ; Aoyama T; IJlst L; Ruiter J; Wanders RJ; Kondo N
Hum Mutat; 2000; 15(5):430-8. PubMed ID: 10790204
[TBL] [Abstract][Full Text] [Related]
14. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
Oey NA; Ruiter JP; Ijlst L; Attie-Bitach T; Vekemans M; Wanders RJ; Wijburg FA
Biochem Biophys Res Commun; 2006 Jul; 346(1):33-7. PubMed ID: 16750164
[TBL] [Abstract][Full Text] [Related]
15. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine.
Primassin S; Ter Veld F; Mayatepek E; Spiekerkoetter U
Pediatr Res; 2008 Jun; 63(6):632-7. PubMed ID: 18317232
[TBL] [Abstract][Full Text] [Related]
16. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.
Schuler AM; Gower BA; Matern D; Rinaldo P; Vockley J; Wood PA
Mol Genet Metab; 2005 May; 85(1):7-11. PubMed ID: 15862275
[TBL] [Abstract][Full Text] [Related]
17. Cloning and characterization of the mouse short-chain acyl-CoA dehydrogenase cDNA.
Kelly CL; Hinsdale ME; Wood PA
Genomics; 1993 Oct; 18(1):137-40. PubMed ID: 8276399
[TBL] [Abstract][Full Text] [Related]
18. Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Zhao XJ; Mohsen AW; Mihalik S; Solo K; Aliu E; Shi H; Basu S; Kochersperger C; Van't Land C; Karunanidhi A; Coughlan KA; Siddiqui S; Rice LM; Hillier S; Guadagnin E; Giangrande PH; Martini PGV; Vockley J
Mol Genet Metab; 2023 Jan; 138(1):106982. PubMed ID: 36580829
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 10356313
[TBL] [Abstract][Full Text] [Related]
20. Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.
Orii KO; Aoyama T; Souri M; Orii KE; Kondo N; Orii T; Hashimoto T
Biochem Biophys Res Commun; 1995 Dec; 217(3):987-92. PubMed ID: 8554625
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]