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Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. Naiki M, et al. Among authors: yamaguchi s. Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664533
[Mitochondrial trifunctional protein deficiency].
Uchiyama A, Yamaguchi S. Uchiyama A, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:747-50. Nihon Rinsho. 2002. PMID: 12013990 Review. Japanese. No abstract available.
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: yamaguchi s. 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: yamaguchi s. 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: yamaguchi s. 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: yamaguchi s. 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
5,421 results