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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Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.

Mika Ishige Tetsuya Ito Takashi Hamazaki Mitsuhiro Kuwahara Lawrence Lee Haruo Shintaku

Molecular genetics and metabolism 140(3) 107697-107697 2023年11月

Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant ph...

Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.

Tokiko Fukuda Tetsuya Ito Takashi Hamazaki Ayano Inui Mika Ishige Reiko Kagawa Norio Sakai Yoriko Watanabe Hironori Kobayashi Yosuke Wasaki Junki Taura Yuki Imamura Tsutomu Tsukiuda Kimitoshi Nakamura

Journal of inherited metabolic disease 46(4) 618-633 2023年7月

BACKGROUND: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are rep...

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.

Katsuyuki Yokoi Yoko Nakajima Yoshihisa Takahashi Takashi Hamajima Go Tajima Kazuyoshi Saito Shunsuke Miyai Hidehito Inagaki Tetsushi Yoshikawa Hiroki Kurahashi Tetsuya Ito

JIMD reports 64(1) 3-9 2023年1月

Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.

Katsuyuki Yokoi Yoko Nakajima Yuta Sudo Tasuku Mariya Rie Kawamura Makiko Tsutsumi Hidehito Inagaki Tetsushi Yoshikawa Tetsuya Ito Hiroki Kurahashi

JIMD reports 63(6) 575-580 2022年11月

Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid deh...

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

Yuji Matsumoto Yohei Ikezumi Tomomi Kondoh Katsuyuki Yokoi Yoko Nakajima Naonori Kumagai Takema Kato Hiroki Kurahashi Tetsuya Ito

The Tohoku journal of experimental medicine 258(3) 183-193 2022年10月

Thrombotic microangiopathy (TMA) is a disease that causes organ damage due to microvascular hemolytic anemia, thrombocytopenia, and microvascular platelet thrombosis. Streptococcus pneumoniae-associated TMA (spTMA) is a rare complication of invasi...

MISC

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フルドロコルチゾンが腎機能維持に有効であったRenal tubular dysgenesisの1幼児例

近藤朋実池住洋平横井克幸川井有里松本祐嗣中島葉子熊谷直憲宮田昌史伊藤哲哉日比野聡藤田直也

日本小児科学会雑誌 123(2) 507-507 2019年2月

Combination of TREC Measurement and Next-Generation Sequencing in Newborn Screening for Severe Combined Immunodeficiency: A Pilot Program in Japan

Muramatsu Hideki Kojima Daiei Okuno Yusuke Kataoka Shinsuke Nakajima Yoko Ito Tetsuya Tsuge Ikuya Yoshimi Sakai Kato Tomoaki Kojima Seiji Takahashi Yoshiyuki

BLOOD 132 2018年11月

【小児疾患の診断治療基準】(第2部)疾患先天代謝異常症ガラクトース血症

中島葉子伊藤哲哉

小児内科 50(増刊) 170-171 2018年11月

新生児高アンモニア血症に対する急性血液浄化療法至適条件の検討

勝田賢幸村英文河田耕太郎内山壮太早川聖子中村智之伊藤哲哉西田修

日本急性血液浄化学会雑誌 9(Suppl.) 126-126 2018年9月

メチルマロン酸血症、プロピオン酸血症における血中アンモニア値とグルタミン値の相関

中島葉子横井克幸前田康博吉川哲史伊藤哲哉

日本先天代謝異常学会雑誌 34 167-167 2018年9月