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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: nishimura y. Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44. Pediatr Res. 2008. PMID: 18670371
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: nishimura y. 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.
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Tamamori A, et al. Among authors: nishimura y. Pediatr Res. 2004 Oct;56(4):608-14. doi: 10.1203/01.PDR.0000139713.64264.BC. Epub 2004 Aug 4. Pediatr Res. 2004. PMID: 15295082
Betaine and homocysteine concentrations in foods.
Sakamoto A, Nishimura Y, Ono H, Sakura N. Sakamoto A, et al. Among authors: nishimura y. Pediatr Int. 2002 Aug;44(4):409-13. doi: 10.1046/j.1442-200x.2002.01591.x. Pediatr Int. 2002. PMID: 12139567
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
Kagawa R, Tajima G, Maeda T, Sakura F, Nakamura-Utsunomiya A, Hara K, Nishimura Y, Yuasa M, Shigematsu Y, Tanaka H, Fujihara S, Yoshii C, Okada S. Kagawa R, et al. Among authors: nishimura y. Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039. Int J Neonatal Screen. 2021. PMID: 34287232 Free PMC article.
4,043 results