研究者氏名	中島葉子
	ナカジマヨウコ
URL
所属	藤田医科大学
部署	医学部小児科学
職名	講師
学位	博士(医学）(名古屋市立大学大学院医学研究科)
J-Global ID	201501021354930009

研究分野

ライフサイエンス / 胎児医学、小児成育学 /

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...

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Kaori Maruwaka Yoko Nakajima Takaharu Yamada Taihei Tanaka Rika Kosaki Hidehito Inagaki Kenjiro Kosaki Hiroki Kurahashi

American journal of medical genetics. Part A 188(7) 2246-2250 2022年3月

Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellec...

TREC測定による新生児マススクリーニングにより診断され同種臍帯血移植を行ったX連鎖重症複合免疫不全症

山下大紀村松秀城今屋雅之山森彩子若松学片岡伸介濱田太立谷口理恵子川島希西川英里成田敦奥野友介西尾信博小島大英中島葉子柘植郁哉中村冨美子酒井好美伊藤哲哉高橋義行

日本小児科学会雑誌 126(2) 281-281 2022年2月

MISC

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【内分泌症候群(第3版)-その他の内分泌疾患を含めて-】糖代謝低血糖症反応性低血糖症ガラクトース血症

伊藤哲哉中島葉子

日本臨床別冊(内分泌症候群IV) 230-234 2019年3月

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

GALMの両アレル性変異はガラクトース血症IV型を呈する(Blallelic GALM pathogenic variants cause a novel type of galactosemia)

和田陽一菊池敦生市野井那津子坂本修竹澤祐介岩澤伸哉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也小原収青木洋子小柴生造深尾敏幸呉繁夫

日本小児科学会雑誌 123(2) 280-280 2019年2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(Blallelic GALM pathogenic variants cause a novel type of galactosemia)

日本小児科学会雑誌 123(2) 280-280 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