Online Mendelian Inheritance in Man (OMIM)
- ️Thu Dec 08 2016
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Andresen, B. S., Bross, P., Vianey-Saban, C., Divry, P., Zabot, M.-T., Roe, C. R., Nada, M. A., Byskov, A., Kruse, T. A., Neve, S., Kristiansen, K., Knudsen, I., Corydon, M. J., Gregersen, N. 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. Hum. Molec. Genet. 5: 461-472, 1996. Note: Erratum: Hum. Molec. Genet. 5: 1390 only, 1996. [PubMed: 8845838] [Full Text: https://doi.org/10.1093/hmg/5.4.461]
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Aoyama, T., Souri, M., Ushikubo, S., Kamijo, T., Yamaguchi, S., Kelley, R. I., Rhead, W. J., Uetake, K., Tanaka, K., Hashimoto, T. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J. Clin. Invest. 95: 2465-2473, 1995. [PubMed: 7769092] [Full Text: https://doi.org/10.1172/JCI117947]
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Cox, G. F., Souri, M., Aoyama, T., Rockenmacher, S., Varvogli, L., Rohr, F., Hashimoto, T., Korson, M. S. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediat. 133: 247-253, 1998. [PubMed: 9709714] [Full Text: https://doi.org/10.1016/s0022-3476(98)70228-8]
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Cox, K. B., Hamm, D. A., Millington, D. S., Matern, D., Vockley, J., Rinaldo, P., Pinkert, C. A., Rhead, W. J., Lindsey, J. R., Wood, P. A. Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum. Molec. Genet. 10: 2069-2077, 2001. [PubMed: 11590124] [Full Text: https://doi.org/10.1093/hmg/10.19.2069]
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Evans, M., Andresen, B. S., Nation, J., Boneh, A. VLCAD deficiency: follow-up and outcome of patients diagnosed through newborn screening in Victoria. Molec. Genet. Metab. 118: 282-287, 2016. [PubMed: 27246109] [Full Text: https://doi.org/10.1016/j.ymgme.2016.05.012]
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Exil, V. J., Roberts, R. L., Sims, H., McLaughlin, J. E., Malkin, R. A., Gardner, C. D., Ni, G., Rottman, J. N., Strauss, A. W. Very-long-chain acyl-coenzyme A dehydrogenase deficiency in mice. Circ. Res. 93: 448-455, 2003. [PubMed: 12893739] [Full Text: https://doi.org/10.1161/01.RES.0000088786.19197.E4]
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Fukao, T., Watanabe, H., Orii, K. E., Takahashi, Y., Hirano, A., Kondo, T., Yamaguchi, S., Aoyama, T., Kondo, N. Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediat. Res. 49: 227-231, 2001. [PubMed: 11158518] [Full Text: https://doi.org/10.1203/00006450-200102000-00016]
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Gobin-Limballe, S., Djouadi, F., Aubey, F., Olpin, S., Andresen, B. S., Yamaguchi, S., Mandel, H., Fukao, T., Ruiter, J. P. N., Wanders, R. J. A., McAndrew, R., Kim, J. J., Bastin, J. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Am. J. Hum. Genet. 81: 1133-1143, 2007. [PubMed: 17999356] [Full Text: https://doi.org/10.1086/522375]
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Izai, K., Uchida, Y., Orii, T., Yamamoto, S., Hashimoto, T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. J. Biol. Chem. 267: 1027-1033, 1992. [PubMed: 1730632]
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Mathur, A., Sims, H. F., Gopalakrishnan, D., Gibson, B., Rinaldo, P., Vockley, J., Hug, G., Strauss, A. W. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999. [PubMed: 10077518] [Full Text: https://doi.org/10.1161/01.cir.99.10.1337]
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Orii, K. O., Saito-Ohara, F., Ikeuchi, T., Orii, T., Kondo, N., Aoyama, T., Hashimoto, T. Assignment of the gene for very-long-chain acyl-CoA dehydrogenase (Acadvl) to mouse chromosome band 11B2-B5 by in situ hybridization. Cytogenet. Cell Genet. 78: 25-26, 1997. [PubMed: 9345900] [Full Text: https://doi.org/10.1159/000134619]
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Pena, L. D. M., van Calcar, S. C., Hansen, J., Edick, M. J., Vockley, C. W., Leslie, N., Cameron, C., Mohsen, A.-W., Berry, S. A., Arnold, G. L., Vockley, J. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Molec. Genet. Metab. 118: 272-281, 2016. [PubMed: 27209629] [Full Text: https://doi.org/10.1016/j.ymgme.2016.05.007]
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Smelt, A. H. M., Poorthuis, B. J. H. M., Onkenhout, W., Scholte, H. R., Andresen, B. S., van Duinen, S. G., Gregersen, N., Wintzen, A. R. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann. Neurol. 43: 540-544, 1998. [PubMed: 9546340] [Full Text: https://doi.org/10.1002/ana.410430422]
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Souri, M., Aoyama, T., Orii, K., Yamaguchi, S., Hashimoto, T. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am. J. Hum. Genet. 58: 97-106, 1996. [PubMed: 8554073]
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Strauss, A. W., Powell, C. K., Hale, D. E., Anderson, M. M., Ahuja, A., Brackett, J. C., Sims, H. F. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc. Nat. Acad. Sci. 92: 10496-10500, 1995. [PubMed: 7479827] [Full Text: https://doi.org/10.1073/pnas.92.23.10496]
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Watanabe, H., Orii, K. E., Fukao, T., Song, X.-Q., Aoyama, T., IJlst, L., Ruiter, J., Wanders, R. J. A., Kondo, N. 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. Hum. Mutat. 15: 430-438, 2000. [PubMed: 10790204] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1]
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Zhang, L.-F., Ding, J.-H., Yang, B.-Z., He, G.-C., Roe, C. Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95. Genomics 82: 660-668, 2003. [PubMed: 14611808] [Full Text: https://doi.org/10.1016/s0888-7543(03)00211-8]
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Zhou, C., Blumberg, B. Overlapping gene structure of human VLCAD and DLG4. Gene 305: 161-166, 2003. [PubMed: 12609736] [Full Text: https://doi.org/10.1016/s0378-1119(02)01235-0]