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Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Kanno J, et al. Among authors: yamaguchi s. Mol Genet Metab. 2007 Aug;91(4):384-9. doi: 10.1016/j.ymgme.2007.02.010. Epub 2007 Apr 11. Mol Genet Metab. 2007. PMID: 17433748
[Very-long-chain acyl-CoA dehydrogenase deficiency].
Hasegawa Y, Yamaguchi S. Hasegawa Y, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:717-21. Nihon Rinsho. 2002. PMID: 12013982 Review. Japanese. No abstract available.
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: yamaguchi s. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621
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: yamaguchi s. 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
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
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N. Fukao T, et al. Among authors: yamaguchi s. Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21. Mol Genet Metab. 2010. PMID: 20156697
5,278 results