横井克幸

研究者氏名	横井克幸
	ヨコイカツユキ
URL
所属	藤田医科大学
部署	医学部医学科
職名
科研費研究者番号	20817457
J-Global ID	201701006524360828

研究分野

ライフサイエンス / 分子生物学 /

論文

12 3 4 5 >

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...

Peripheral venous catheter-related candidemia in an immunocompetent child.

Yuta Sudo Yoshiki Kawamura Hiroki Miura Katsuyuki Yokoi Tetsushi Yoshikawa

Pediatrics international : official journal of the Japan Pediatric Society 64(1) e14883 2022年1月

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.

Tomomi Kondoh Yoko Nakajima Katsuyuki Yokoi Yuji Matsumoto Hidehito Inagaki Takema Kato Yoichi Nakajima Tetsuya Ito Tetsushi Yoshikawa Hiroki Kurahashi

The Tohoku journal of experimental medicine 256(1) 37-41 2022年1月

Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and the absence of pancreatic autoimmune markers. MODY-causing mutations have been identified in 14 genes, and...

MISC

<1 2 34

新生児発症尿素サイクル異常症の治療戦略血液浄化療法中の全身管理と必須アミノ酸投与の重要性

横井克幸中島葉子川井有里近藤朋実松本裕嗣宮田昌史池住洋平吉川哲史伊藤哲哉

日本先天代謝異常学会雑誌 33 170-170 2017年9月

メニュー/MENU

医学部 小児科学

横井 克幸

研究分野

論文

MISC

医学部　小児科学

横井克幸