研究者氏名	伊藤哲哉
	イトウテツヤ
URL
所属	藤田医科大学
部署	医学部医学科小児科学
職名	教授
学位	博士(医学)(名古屋市立大学)
J-Global ID	200901068397108270

研究分野

ライフサイエンス / 胎児医学、小児成育学 / 先天代謝異常症

論文

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Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia

Kana Gotoh Yoko Nakajima Go Tajima Yoriko Watanabe Yuji Hotta Tomoya Kataoka Yoshihiro Kawade Naruji Sugiyama Tetsuya Ito Kazunori Kimura Yasuhiro Maeda

JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES 1046 195-199 2017年3月 [査読有り]

Propionic acidemia (PA) is an inherited metabolic disease caused by low activity of propionyl coenzyme A (CoA) carboxylase (PCC), which metabolizes propionyl-CoA into methylmalonyl-CoA. Although many patients with PA have been identified by tandem...

Successful living donor liver transplantation for classical maple syrup urine disease

Toshihiro Yasui Tatsuya Suzuki Fujio Hara Shunsuke Watanabe Naoko Uga Atsuki Naoe Tetsushi Yoshikawa Tetsuya Ito Yoko Nakajima Hiroki Miura Atsushi Sugioka Yutaro Kato Takamasa Tokoro Yoshinao Tanahashi Mureo Kasahara Akinari Fukuda Hiroki Kurahashi

PEDIATRIC TRANSPLANTATION 20(5) 707-710 2016年8月 [査読有り]

MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most p...

Kinetic and molecular orbital analyses of dicarboxylic acylcarnitine methylesterification show that derivatization may affect the screening of newborns by tandem mass spectrometry

Yasuhiro Maeda Yoko Nakajima Kana Gotoh Yuji Hotta Tomoya Kataoka Naruji Sugiyama Naohiro Shirai Tetsuya Ito Kazunori Kimura

BIOORGANIC & MEDICINAL CHEMISTRY LETTERS 26(1) 121-125 2016年1月 [査読有り]

Newborns are routinely screened for organic acidemias by acylcarnitine analysis. We previously reported the partial catalytic methylesterification of dicarboxylic acylcarnitines by benzenesulfonic acid moiety in the solid extraction cartridge duri...

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G > A in the Dihydropyrimidinase (DPYS) Gene

Yoko Nakajima Judith Meijer Chunhua Zhang Xu Wang Tomomi Kondo Tetsuya Ito Doreen Dobritzsch Andre B. P. Van Kuilenburg

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 17(1) 2016年1月 [査読有り]

Dihydropyrimidinase (DHP) deficiency is an autosomal recessive disease caused by mutations in the DPYS gene. Patients present with highly elevated levels of dihydrouracil and dihydrothymine in their urine, blood and cerebrospinal fluid. The analys...

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

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

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE 237(3) 235-239 2015年11月 [査読有り]

Fructose-1,6-bisphosphatase (FBPase), an enzyme involved in gluconeogenesis, catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate and inorganic phosphate. FBPase deficiency is an autosonnal recessive inherited disorder, ch...

MISC

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A Breast-Fed Baby with Low KREC in TREC/KREC Newborn Screening Whose Mother Received Azathioprine Treatment

Manabu Wakamatsu Hideki Muramatsu Daiei Kojima Yusuke Okuno Yoshimi Sakai Yoko Nakajima Tetsuya Ito Nozomu Kawashima Atsushi Narita Yoshiyuki Takahashi

PEDIATRIC BLOOD & CANCER 67 2020年12月

アザチオプリン内服中の母体から出生し、新生児マススクリーニングでKREC低値を認めた一例(A breast-fed baby with low KREC in TREC/KREC newborn screening whose mother received azathioprine treatment)

Wakamatsu Manabu Muramatsu Hideki Kojima Daiei Okuno Yusuke Sakai Yoshimi Nakajima Yoko Ito Tetsuya Kawashima Nozomu Narita Atsushi Takahashi Yoshiyuki

日本小児血液・がん学会雑誌 57(4) 241-241 2020年10月

新生児マススクリーニング対象先天代謝異常症の遺伝子パネル解析5年間のまとめ

笹井英雄伊藤哲哉但馬剛中村公俊濱崎考史深尾敏幸松本英樹吾郷耕彦細川淳一藤木亮次小原收原圭一中島葉子小林正久市野井那津子坂本修城戸淳松本志郎小林弘典長谷川有紀

日本マス・スクリーニング学会誌 29(2) 198-198 2019年10月

GALMの両アレル性変異はガラクトース血症IV型を呈する

和田陽一菊池敦生市野井那津子坂本修岩澤伸哉竹澤祐介新堀哲也入月浩美中島葉子小川えりか石毛美夏平井洋生笹井英雄藤木亮次伊藤哲哉小原收青木洋子深尾敏幸呉繁夫

日本先天代謝異常学会雑誌 35 114-114 2019年9月 [査読有り]

溶連菌感染を契機に発症したANCA関連急速進行性糸球体腎炎の1例

神野重光池住洋平熊谷直憲近藤朋実横井克幸中島葉子伊藤哲哉吉川哲史西村直子

日本小児科学会雑誌 123(8) 1336-1336 2019年8月