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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Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.

Yasuhiko Ago Hiroki Otsuka Hideo Sasai Elsayed Abdelkreem Mina Nakama Yuka Aoyama Hideki Matsumoto Ryoji Fujiki Osamu Ohara Kazumasa Akiyama Kaori Fukui Yoriko Watanabe Yoko Nakajima Hidenori Ohnishi Tetsuya Ito Toshiyuki Fukao

Experimental and therapeutic medicine 20(5) 39-39 2020年11月

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and ...

新生児スクリーニングで経験した興味深い症例提示とその対応 C5DC陽性の経過観察中、高インスリン性低血糖を認め診断に至ったHAD欠損症の姉妹例

横井克幸中島葉子近藤朋実加藤武馬池住洋平吉川哲史倉橋浩樹伊藤哲哉

日本マス・スクリーニング学会誌 30(2) 137-137 2020年9月

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.

Yoshihito Kishita Masaru Shimura Masakazu Kohda Masumi Akita Atsuko Imai-Okazaki Yukiko Yatsuka Yoko Nakajima Tetsuya Ito Akira Ohtake Kei Murayama Yasushi Okazaki

Molecular genetics & genomic medicine e1427 2020年8月 [査読有り]

BACKGROUND: Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number. Most MTDPS is caused by mutations in genes that disrupt deoxyribonucleotide metabo...

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.

Katsuyuki Yokoi Yoko Nakajima Hiroshi Matsuoka Yasuko Shinkai Takuma Ishihara Yasuhiro Maeda Takema Kato Hidetoshi Katsuno Koji Masumori Kenji Kawada Tetsushi Yoshikawa Tetsuya Ito Hiroki Kurahashi

Cancer science 2020年7月 [査読有り]

Cancer treatment with a fluoropyrimidine (FP) is often accompanied by severe toxicity that may be dependent on the activity of catalytic enzymes encoded by the DPYD, DPYS, and UPB1 genes. Genotype-guided dose individualization of FP therapy has be...

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Yoichi Wada Atsuo Kikuchi Natsuko Arai-Ichinoi Osamu Sakamoto Yusuke Takezawa Shinya Iwasawa Tetsuya Niihori Hiromi Nyuzuki Yoko Nakajima Erika Ogawa Mika Ishige Hiroki Hirai Hideo Sasai Ryoji Fujiki Matsuyuki Shirota Ryo Funayama Masayuki Yamamoto Tetsuya Ito Osamu Ohara Keiko Nakayama Yoko Aoki Seizo Koshiba Toshiyuki Fukao Shigeo Kure

Genetics in medicine : official journal of the American College of Medical Genetics 22(7) 1281-1281 2020年7月 [査読有り]

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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