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Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: kobayashi h. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Quantitative evaluation of sphingolipids using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to cardiac valves from a patient with Fabry disease.
Fujiwaki T, Tasaka M, Takahashi N, Kobayashi H, Murakami Y, Shimada T, Yamaguchi S. Fujiwaki T, et al. Among authors: kobayashi h. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 17;832(1):97-102. doi: 10.1016/j.jchromb.2005.12.039. Epub 2006 Jan 20. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16431168
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: kobayashi h. 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. Among authors: kobayashi h. 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
9,316 results