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A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: mushimoto y. Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6. Mol Genet Metab. 2009. PMID: 19064330
Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).
Mushimoto Y, Hasegawa Y, Kobayashi H, Li H, Purevsuren J, Nakamura I, Taketani T, Fukuda S, Yamaguchi S. Mushimoto Y, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Sep 1;877(25):2648-51. doi: 10.1016/j.jchromb.2009.04.043. Epub 2009 May 4. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19467937
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S. Li H, et al. Among authors: mushimoto y. Brain Dev. 2010 May;32(5):362-70. doi: 10.1016/j.braindev.2009.06.001. Epub 2009 Jul 8. Brain Dev. 2010. PMID: 19589653
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S. Li H, et al. Among authors: mushimoto y. J Chromatogr B Analyt Technol Biomed Life Sci. 2010 Jun 15;878(20):1669-72. doi: 10.1016/j.jchromb.2010.01.046. Epub 2010 Feb 11. J Chromatogr B Analyt Technol Biomed Life Sci. 2010. PMID: 20207594
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S. Endo M, et al. Among authors: mushimoto y. J Chromatogr B Analyt Technol Biomed Life Sci. 2010 Jun 15;878(20):1673-6. doi: 10.1016/j.jchromb.2010.03.029. Epub 2010 Mar 20. J Chromatogr B Analyt Technol Biomed Life Sci. 2010. PMID: 20392676
35 results