Yamaguchi S - Search Results

1

Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.

Hasegawa Y, Iga M, Kimura M, Shigematsu Y, Yamaguchi S. Hasegawa Y, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):13-7. doi: 10.1016/j.jchromb.2005.04.020. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 15908288

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

Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.

Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T. Aoshima T, et al. Among authors: yamaguchi s. Hum Hered. 2002;53(1):42-4. doi: 10.1159/000048603. Hum Hered. 2002. PMID: 11901270

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

[Carnitine acylcarnitine translocase deficiency].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:714-6. Nihon Rinsho. 2002. PMID: 12013981 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

[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.

8

[Mitochondrial carnitine acylcarnitine translocase].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:85-7. Nihon Rinsho. 2002. PMID: 12014004 Review. Japanese. No abstract available.

9

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

Uchiyama A, Haneda N, Saito K, Miyamoto S, Takusa Y, Kanai R, Kimura M, Sejima H, Yamaguchi S. Uchiyama A, et al. Among authors: yamaguchi s. Eur J Pediatr. 2002 Jun;161(6):360-1. doi: 10.1007/s00431-002-0946-4. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029462

10

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, Tajima T, Yamaguchi S. Shigematsu Y, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):39-48. doi: 10.1016/s1570-0232(02)00077-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127323

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