Yamaguchi S - Search Results

1

Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.

Yasuno T, Osafune K, Sakurai H, Asaka I, Tanaka A, Yamaguchi S, Yamada K, Hitomi H, Arai S, Kurose Y, Higaki Y, Sudo M, Ando S, Nakashima H, Saito T, Kaneoka H. Yasuno T, et al. Among authors: yamaguchi s. Biochem Biophys Res Commun. 2014 May 30;448(2):175-81. doi: 10.1016/j.bbrc.2014.04.084. Epub 2014 Apr 26. Biochem Biophys Res Commun. 2014. PMID: 24780397

2

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

Kaneoka H, Uesugi N, Moriguchi A, Hirose S, Takayanagi M, Yamaguchi S, Shigematsu Y, Yasuno T, Sasatomi Y, Saito T. Kaneoka H, et al. Among authors: yamaguchi s. Am J Kidney Dis. 2005 Mar;45(3):596-602. doi: 10.1053/j.ajkd.2004.12.006. Am J Kidney Dis. 2005. PMID: 15754283

3

Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms.

Yamazaki N, Matsuo T, Kurata M, Suzuki M, Fujiwaki T, Yamaguchi S, Terada H, Shinohara Y. Yamazaki N, et al. Among authors: yamaguchi s. Biochem Genet. 2008 Feb;46(1-2):54-63. doi: 10.1007/s10528-007-9129-3. Epub 2007 Nov 7. Biochem Genet. 2008. PMID: 17987377

4

Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.

Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, Tsuchiya S. Tsuburaya R, et al. Among authors: yamaguchi s. Brain Dev. 2010 May;32(5):409-11. doi: 10.1016/j.braindev.2009.03.004. Epub 2009 Apr 3. Brain Dev. 2010. PMID: 19345525

5

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

6

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: yamaguchi s. 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

7

Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.

Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N. Hori T, et al. Among authors: yamaguchi s. Tohoku J Exp Med. 2010 Jul;221(3):191-5. doi: 10.1620/tjem.221.191. Tohoku J Exp Med. 2010. PMID: 20543534 Free article.

8

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: yamaguchi s. Mol Genet Metab. 2012 Sep;107(1-2):237-40. doi: 10.1016/j.ymgme.2012.06.010. Epub 2012 Jun 26. Mol Genet Metab. 2012. PMID: 22796001

9

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

Yamaguchi S, Li H, Purevsuren J, Yamada K, Furui M, Takahashi T, Mushimoto Y, Kobayashi H, Hasegawa Y, Taketani T, Fukao T, Fukuda S. Yamaguchi S, et al. Mol Genet Metab. 2012 Sep;107(1-2):87-91. doi: 10.1016/j.ymgme.2012.07.004. Epub 2012 Jul 14. Mol Genet Metab. 2012. PMID: 22841441

10

Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.

Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S. Purevsuren J, et al. Among authors: yamaguchi s. Anal Bioanal Chem. 2013 Feb;405(4):1345-51. doi: 10.1007/s00216-012-6532-3. Epub 2012 Nov 10. Anal Bioanal Chem. 2013. PMID: 23143007

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