Search Results - "HATA, Ikue"

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

“…Background The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods…”
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Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases by Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Jamiyan, Purevsuren, Hasegawa, Yuki, Taketani, Takeshi, Fukuda, Seiji, Hata, Ikue, Niida, Yo, Shigematsu, Yosuke, Iijima, Kazumoto, Yamaguchi, Seiji

“…Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain…”
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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 by 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

“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since…”
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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection by 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

“…Mitochondrial diseases (MDs) are occasionally difficult to diagnose. Growth differentiation factor 15 (GDF15) has been reported as a biomarker useful for not…”
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Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria by Shigematsu, Yosuke, Hata, Ikue, Tajima, Go

“…Common use of pivalate-generating antibiotics in newborns in Japan and low cutoff value of C5-acylcarnitine (C5) to detect mild forms of isovaleric acidemia…”
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Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young by 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

“…Aims/Introduction Glucokinase–maturity‐onset diabetes of the young (GCK‐MODY; also known as MODY2) is a benign hyperglycemic condition, which generally does…”
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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 by 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

“…Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn…”
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National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics by 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

“…Objectives: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate…”
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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 by Kato, Sayaka, Nakajima, Yoko, Awaya, Risa, Hata, Ikue, Shigematsu, Yosuke, Saitoh, Shinji, Ito, Tetsuya

“…Fructose-1,6-bisphosphatase (FBPase), an enzyme involved in gluconeogenesis, catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate and…”
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Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation by Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of…”
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Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia by Shigematsu, Yosuke, Hata, Ikue, Tanaka, Yukie

“…Recent neonatal screening for isovaleric acidemia by tandem mass spectrometry based on dried blood-spot levels of C5-acylcarnitines, including…”
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Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan by Shigematsu, Yosuke, Hirano, Satoko, Hata, Ikue, Tanaka, Yukie, Sudo, Masakatsu, Sakura, Nobuo, Tajima, Tsuyoshi, Yamaguchi, Seiji

“…Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective…”
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Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan by 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

“…Since the first case was detected in 2000, there has been a remarkable increase in Japanese patients diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD)…”
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Paroxysmal cold hemoglobinuria caused by an IgM‐class Donath–Landsteiner antibody by Hayashi, Hisako, Yasutomi, Motoko, Hayashi, Taihei, Yuasa, Miori, Kawakita, Akiko, Hata, Ikue, Tanizawa, Akihiko, Muramatsu, Hideki, Kojima, Seiji, Ohshima, Yusei

“…We report on a 4‐year‐old boy who developed paroxysmal cold hemoglobinuria (PCH) following the first dose of a seven‐valent pneumococcal conjugate vaccine. He…”
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Biotin and carnitine profiles in preterm infants in Japan by Tokuriki, Shuko, Hayashi, Hisako, Okuno, Takashi, Yoshioka, Kikuko, Okazaki, Shintaro, Kawakita, Akiko, Ohta, Genrei, Hata, Ikue, Shigematsu, Yosuke, Ohshima, Yusei

“…Background Biotin plays an important role as a covalently bound coenzyme for carboxylases. Carnitine is essential in β‐oxidation to transport long‐chain fatty…”
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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 by 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

“…The introduction of tandem mass spectrometry (MS/MS) has made it possible to screen for very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. To confirm…”
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Urinary oxidative stress markers in young patients with type 1 diabetes by HATA, IKUE, KAJI, MASAYUKI, HIRANO, SATOKO, SHIGEMATSU, YOSUKE, TSUKAHARA, HIROKAZU, MAYUMI, MITSUFUMI

“…Background: Involvement of oxidative stress in the pathogenesis of diabetic vascular complications has been proposed. However, there are few methods to…”
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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 by Shigematsu, Yosuke, Hata, Ikue, Tanaka, Yukie, Tajima, Go, Sakura, Nobuo, Naito, Etsuo, Yorifuji, Toru

“…We developed a simple and sensitive stable-isotope dilution method for the quantification of 3-hydroxyglutaric acid (3HGA) and glutaric acid (GA) in body…”
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Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency by 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

“…Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis…”
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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 by Tajima, Go, Sakura, Nobuo, Yofune, Hiroko, Nishimura, Yutaka, Ono, Hiroaki, Hasegawa, Yuki, Hata, Ikue, Kimura, Masahiko, Yamaguchi, Seiji, Shigematsu, Yosuke, Kobayashi, Masao

“…Many of the previously described enzymatic assay methods for the diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have been dependent upon…”
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