Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test von 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

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Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases von Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Jamiyan, Purevsuren, Hasegawa, Yuki, Taketani, Takeshi, Fukuda, Seiji, Hata, Ikue, Niida, Yo, Shigematsu, Yosuke, Iijima, Kazumoto, Yamaguchi, Seiji

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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening von 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

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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection von 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

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Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria von Shigematsu, Yosuke, Hata, Ikue, Tajima, Go

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Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young von 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

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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 von 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

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National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics von 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

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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 von Kato, Sayaka, Nakajima, Yoko, Awaya, Risa, Hata, Ikue, Shigematsu, Yosuke, Saitoh, Shinji, Ito, Tetsuya

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Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia von Shigematsu, Yosuke, Hata, Ikue, Tanaka, Yukie

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Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation von Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao

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Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan von 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

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Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan von Shigematsu, Yosuke, Hirano, Satoko, Hata, Ikue, Tanaka, Yukie, Sudo, Masakatsu, Sakura, Nobuo, Tajima, Tsuyoshi, Yamaguchi, Seiji

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Paroxysmal cold hemoglobinuria caused by an IgM‐class Donath–Landsteiner antibody von Hayashi, Hisako, Yasutomi, Motoko, Hayashi, Taihei, Yuasa, Miori, Kawakita, Akiko, Hata, Ikue, Tanizawa, Akihiko, Muramatsu, Hideki, Kojima, Seiji, Ohshima, Yusei

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Biotin and carnitine profiles in preterm infants in Japan von Tokuriki, Shuko, Hayashi, Hisako, Okuno, Takashi, Yoshioka, Kikuko, Okazaki, Shintaro, Kawakita, Akiko, Ohta, Genrei, Hata, Ikue, Shigematsu, Yosuke, Ohshima, Yusei

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Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis von Terashita, Shintaro, Akai, Takuya, Hata, Ikue, Ozawa, Tetsuo, Imai, Chihaya

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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... von Tajima, Go, Sakura, Nobuo, Shirao, Kenichiro, Okada, Satoshi, Tsumura, Miyuki, Nishimura, Yutaka, Ono, Hiroaki, Hasegawa, Yuki, Hata, Ikue, Naito, Etsuo, Yamaguchi, Seiji, Shigematsu, Yosuke, Kobayashi, Masao

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Urinary oxidative stress markers in young patients with type 1 diabetes von HATA, IKUE, KAJI, MASAYUKI, HIRANO, SATOKO, SHIGEMATSU, YOSUKE, TSUKAHARA, HIROKAZU, MAYUMI, MITSUFUMI

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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... von Shigematsu, Yosuke, Hata, Ikue, Tanaka, Yukie, Tajima, Go, Sakura, Nobuo, Naito, Etsuo, Yorifuji, Toru

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Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency von 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

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