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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
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. doi: 10.1016/j.jchromb.2005.06.043. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16046200 Review.
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
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: yamaguchi s. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Osawa Y, Kobayashi H, Tajima G, Hara K, Yamada K, Fukuda S, Hasegawa Y, Aisaki J, Yuasa M, Hata I, Okada S, Shigematsu Y, Sasai H, Fukao T, Takizawa T, Yamaguchi S, Taketani T. Osawa Y, et al. Among authors: yamaguchi s. Mol Genet Metab. 2022 May;136(1):74-79. doi: 10.1016/j.ymgme.2022.03.009. Epub 2022 Mar 25. Mol Genet Metab. 2022. PMID: 35400565
Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients.
Fujiwaki T, Yamaguchi S, Tasaka M, Sakura N, Taketomi T. Fujiwaki T, et al. Among authors: yamaguchi s. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):115-23. doi: 10.1016/s1570-0232(02)00177-0. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127332
5,410 results