Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test
Sugihara, Keiichi, Yuasa, Miori, Isozaki, Yuko, Hata, Ikue, Ohshima, Yusei, Hamazaki, Takashi, Kakiuchi, Toshihiko, Arao, Masato, Igarashi, Noboru, Kotani, Yumiko, Fukuda, Tokiko, Kagawa, Reiko, Tajima, Go, Shigematsu, Yosuke
Published in Pediatric research (01.11.2022)
Published in Pediatric research (01.11.2022)
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Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases
Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Jamiyan, Purevsuren, Hasegawa, Yuki, Taketani, Takeshi, Fukuda, Seiji, Hata, Ikue, Niida, Yo, Shigematsu, Yosuke, Iijima, Kazumoto, Yamaguchi, Seiji
Published in Journal of human genetics (01.09.2017)
Published in Journal of human genetics (01.09.2017)
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Journal Article
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
Osawa, Yoshimitsu, Kobayashi, Hironori, Tajima, Go, Hara, Keiichi, Yamada, Kenji, Fukuda, Seiji, Hasegawa, Yuki, Aisaki, Junko, Yuasa, Miori, Hata, Ikue, Okada, Satoshi, Shigematsu, Yosuke, Sasai, Hideo, Fukao, Toshiyuki, Takizawa, Takumi, Yamaguchi, Seiji, Taketani, Takeshi
Published in Molecular genetics and metabolism (01.05.2022)
Published in Molecular genetics and metabolism (01.05.2022)
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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection
Koga, Yasutoshi, Povalko, Nataliya, Inoue, Eisuke, Ishii, Akiko, Fujii, Katsunori, Fujii, Tatsuya, Murayama, Kei, Mogami, Yukiko, Hata, Ikue, Ikawa, Masamichi, Fukami, Kei, Fukumoto, Yoshihiro, Nomura, Masatoshi, Ichikawa, Kazuki, Yoshida, Kaori
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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Journal Article
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria
Shigematsu, Yosuke, Hata, Ikue, Tajima, Go
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Conference Proceeding
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young
Hosokawa, Yuki, Higuchi, Shinji, Kawakita, Rie, Hata, Ikue, Urakami, Tatsuhiko, Isojima, Tsuyoshi, Takasawa, Kei, Matsubara, Yohei, Mizuno, Haruo, Maruo, Yoshihiro, Matsui, Katsuyuki, Aizu, Katsuya, Jinno, Kazuhiko, Araki, Shunsuke, Fujisawa, Yasuko, Osugi, Koji, Tono, Chikako, Takeshima, Yasuhiro, Yorifuji, Tohru
Published in Journal of diabetes investigation (01.11.2019)
Published in Journal of diabetes investigation (01.11.2019)
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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Maruyama, Shinsuke, Noguchi, Atsuko, Awaya, Tomonari, Ishige, Mika, Ishige, Nobuyuki, Musha, Ikuma, Ajihara, Sayaka, Ohtake, Akira, Naito, Etsuo, Hamada, Yusuke, Kono, Tomotaka, Asada, Tomoko, Sasai, Hideo, Fukao, Toshiyuki, Fujiki, Ryoji, Ohara, Osamu, Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Yamaguchi, Seiji, Takayanagi, Masaki, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics
Tanaka, Takayuki, Yoshioka, Kohei, Nishikomori, Ryuta, Sakai, Hidemasa, Abe, Junya, Yamashita, Yuriko, Hiramoto, Ryugo, Morimoto, Akira, Ishii, Eiichi, Arakawa, Hirokazu, Kaneko, Utako, Ohshima, Yusei, Okamoto, Nami, Ohara, Osamu, Hata, Ikue, Shigematsu, Yosuke, Kawai, Tomoki, Yasumi, Takahiro, Heike, Toshio
Published in Modern rheumatology (02.01.2019)
Published in Modern rheumatology (02.01.2019)
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Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis
Kato, Sayaka, Nakajima, Yoko, Awaya, Risa, Hata, Ikue, Shigematsu, Yosuke, Saitoh, Shinji, Ito, Tetsuya
Published in The Tohoku Journal of Experimental Medicine (01.11.2015)
Published in The Tohoku Journal of Experimental Medicine (01.11.2015)
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Journal Article
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.12.2016)
Published in Molecular genetics and metabolism (01.12.2016)
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Journal Article
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
Shigematsu, Yosuke, Hirano, Satoko, Hata, Ikue, Tanaka, Yukie, Sudo, Masakatsu, Sakura, Nobuo, Tajima, Tsuyoshi, Yamaguchi, Seiji
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (25.08.2002)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (25.08.2002)
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Journal Article
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan
Hara, Keiichi, Tajima, Go, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Shirao, Kenichiro, Ohno, Yoshinori, Yasunaga, Shin'ichiro, Ohtsubo, Motoaki, Hata, Ikue, Sakura, Nobuo, Shigematsu, Yosuke, Takihara, Yoshihiro, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.05.2016)
Published in Molecular genetics and metabolism (01.05.2016)
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Journal Article
Paroxysmal cold hemoglobinuria caused by an IgM‐class Donath–Landsteiner antibody
Hayashi, Hisako, Yasutomi, Motoko, Hayashi, Taihei, Yuasa, Miori, Kawakita, Akiko, Hata, Ikue, Tanizawa, Akihiko, Muramatsu, Hideki, Kojima, Seiji, Ohshima, Yusei
Published in Pediatrics international (01.10.2013)
Published in Pediatrics international (01.10.2013)
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Journal Article
Biotin and carnitine profiles in preterm infants in Japan
Tokuriki, Shuko, Hayashi, Hisako, Okuno, Takashi, Yoshioka, Kikuko, Okazaki, Shintaro, Kawakita, Akiko, Ohta, Genrei, Hata, Ikue, Shigematsu, Yosuke, Ohshima, Yusei
Published in Pediatrics international (01.06.2013)
Published in Pediatrics international (01.06.2013)
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Journal Article
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, Go, SAKURA, Nobuo, YAMAGUCHI, Seiji, SHIGEMATSU, Yosuke, KOBAYASHI, Masao, SHIRAO, Kenichiro, OKADA, Satoshi, TSUMURA, Miyuki, NISHIMURA, Yutaka, ONO, Hiroaki, HASEGAWA, Yuki, HATA, Ikue, NAITO, Etsuo
Published in Pediatric research (01.12.2008)
Published in Pediatric research (01.12.2008)
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Journal Article
Urinary oxidative stress markers in young patients with type 1 diabetes
HATA, IKUE, KAJI, MASAYUKI, HIRANO, SATOKO, SHIGEMATSU, YOSUKE, TSUKAHARA, HIROKAZU, MAYUMI, MITSUFUMI
Published in Pediatrics international (01.02.2006)
Published in Pediatrics international (01.02.2006)
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Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening
Shigematsu, Yosuke, Hata, Ikue, Tanaka, Yukie, Tajima, Go, Sakura, Nobuo, Naito, Etsuo, Yorifuji, Toru
Published in Journal of chromatography. B (25.08.2005)
Published in Journal of chromatography. B (25.08.2005)
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Journal Article
Conference Proceeding
Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
TAMAMORI, Akiko, FUJIMOTO, Akie, TOKUHARA, Daisuke, NISHIMURA, Yutaka, YORIFUJI, Tohru, IGARASHI, Noboru, OHURA, Toshihiro, SHIMIZU, Takashi, INUI, Koji, SAKAI, Norio, ABUKAWA, Daiki, MIYAKAWA, Takayuki, OKANO, Yoshiyuki, MATSUMORI, Mika, BAN, Kyoko, KANEKO, Hiroaki, YAMANO, Tsunekazu, KOBAYASHI, Keiko, SAHEKI, Takeyori, TAGAMI, Yasuko, TAKEI, Hazime, SHIGEMATSU, Yosuke, HATA, Ikue, OZAKI, Hajime
Published in Pediatric research (01.10.2004)
Published in Pediatric research (01.10.2004)
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