Yamaguchi S - Search Results

1

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

2

Normal pituitary function in a Japanese patient with Barth syndrome.

Katsushima Y, Fujiwara I, Sakamoto O, Ohura T, Miyabayashi S, Ohnuma A, Yamaguchi S, Iinuma K. Katsushima Y, et al. Among authors: yamaguchi s. Eur J Pediatr. 2002 Jan;161(1):67-8. doi: 10.1007/s00431-001-0869-5. Eur J Pediatr. 2002. PMID: 11808885 No abstract available.

3

Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients.

Fujiwaki T, Yamaguchi S, Sukegawa K, Taketomi T. Fujiwaki T, et al. Among authors: yamaguchi s. Brain Dev. 2002 Apr;24(3):170-3. doi: 10.1016/s0387-7604(02)00026-8. Brain Dev. 2002. PMID: 11934514

4

[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.

5

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

6

Serial magnetic resonance angiography in cerebral infarction after varicella infection.

Kimura M, Hasegawa Y, Sejima H, Inoue M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Psychiatry Clin Neurosci. 2002 Oct;56(5):585-8. doi: 10.1046/j.1440-1819.2002.01058.x. Psychiatry Clin Neurosci. 2002. PMID: 12193251 Free article.

7

A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.

Tamaoki Y, Kimura M, Hasegawa Y, Iga M, Inoue M, Yamaguchi S. Tamaoki Y, et al. Among authors: yamaguchi s. Brain Dev. 2002 Oct;24(7):675-80. doi: 10.1016/s0387-7604(02)00074-8. Brain Dev. 2002. PMID: 12427513

8

[Juvenile myoclonic epilepsy misdiagnosed as focal epilepsy: variability of myoclonic seizures].

Kimura M, Hasegawa Y, Takusa Y, Sejima H, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. No To Hattatsu. 2003 Jan;35(1):37-42. No To Hattatsu. 2003. PMID: 12607289 Japanese.

9

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

10

Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.

Yoshino M, Tokunaga Y, Watanabe Y, Yoshida I, Sakaguchi M, Hata I, Shigematsu Y, Kimura M, Yamaguchi S. Yoshino M, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):73-82. doi: 10.1016/s1570-0232(03)00310-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12828999

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