Yamaguchi S - Search Results

1

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Among authors: yamaguchi s. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

2

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

3

Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.

Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Tajima T, Sakura N, Yamaguchi S, Takayanagi M. Shigematsu Y, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):63-72. doi: 10.1016/s1570-0232(03)00281-2. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12828998

4

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: yamaguchi s. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681

5

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

6

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.

Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: yamaguchi s. Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44. Pediatr Res. 2008. PMID: 18670371

7

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

8

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

9

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: yamaguchi s. 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

10

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

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