Yamaguchi S - Search Results

1

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

2

A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots.

Kimura M, Yoon HR, Wasant P, Takahashi Y, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Clin Chim Acta. 2002 Feb;316(1-2):117-21. doi: 10.1016/s0009-8981(01)00741-0. Clin Chim Acta. 2002. PMID: 11750281

3

Peroxisomal acyl CoA oxidase deficiency.

Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N. Suzuki Y, et al. Among authors: yamaguchi s. J Pediatr. 2002 Jan;140(1):128-30. doi: 10.1067/mpd.2002.120511. J Pediatr. 2002. PMID: 11815777

4

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Takusa Y, Fukao T, Kimura M, Uchiyama A, Abo W, Tsuboi Y, Hirose S, Fujioka H, Kondo N, Yamaguchi S. Takusa Y, et al. Among authors: yamaguchi s. Mol Genet Metab. 2002 Mar;75(3):227-34. doi: 10.1006/mgme.2002.3297. Mol Genet Metab. 2002. PMID: 11914034

5

[Mitochondrial 3-hydroxyacyl-CoA dehydrogenase (SCHAD, LCHAD)].

Yamaguchi S. Yamaguchi S. Nihon Rinsho. 2002 Apr;60 Suppl 4:101-4. Nihon Rinsho. 2002. PMID: 12013827 Review. Japanese. No abstract available.

6

[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.

7

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].

Takusa Y, Yamaguchi S. Takusa Y, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:722-5. Nihon Rinsho. 2002. PMID: 12013983 Review. Japanese. No abstract available.

8

[Short chain acyl-CoA dehydrogenase deficiency].

Sejima H, Yamaguchi S. Sejima H, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:726-9. Nihon Rinsho. 2002. PMID: 12013984 Review. Japanese. No abstract available.

9

[Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency].

Uchiyama A, Yamaguchi S. Uchiyama A, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:730-3. Nihon Rinsho. 2002. PMID: 12013985 Review. Japanese. No abstract available.

10

[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:734-7. Nihon Rinsho. 2002. PMID: 12013986 Review. Japanese. No abstract available.

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