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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: hata i. 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: hata i. 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.
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: hata i. 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
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: hata i. 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
81 results