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

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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...