Li H - Search Results

1

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. 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

2

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: li 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

3

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: li 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

4

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. 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

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: li h. 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

6

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. Among authors: li h. 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

7

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.

Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S. Purevsuren J, et al. Among authors: li h. Mol Genet Metab. 2009 Dec;98(4):372-7. doi: 10.1016/j.ymgme.2009.07.011. Epub 2009 Jul 23. Mol Genet Metab. 2009. PMID: 19699128

8

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, Taketani T, Yamaguchi S. Mushimoto Y, et al. Among authors: li h. Mol Genet Metab. 2011 Mar;102(3):343-8. doi: 10.1016/j.ymgme.2010.11.159. Epub 2010 Nov 25. Mol Genet Metab. 2011. PMID: 21176883

9

Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.

Li H, Yamagata T, Mori M, Momoi MY. Li H, et al. Brain Dev. 2005 Apr;27(3):207-10. doi: 10.1016/j.braindev.2004.06.002. Brain Dev. 2005. PMID: 15737702

10

Mutation analysis of methyl-CpG binding protein family genes in autistic patients.

Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY. Li H, et al. Brain Dev. 2005 Aug;27(5):321-5. doi: 10.1016/j.braindev.2004.08.003. Brain Dev. 2005. PMID: 15967618

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