Nakajima Yoko

ナカジマヨウコ | Nakajima Yoko

Affiliation and department：

Research field (1)： Fetal medicine/Pediatrics

Research theme for competitive and other funds (3)：

2022 - 2025 有機酸代謝異常症における高アンモニア血症発生機構に関する研究
2016 - 2018 Diagnosis of pyrimidine degradation disorder in patients with severe 5-FU side effect
2014 - 2016 Diagnostic method for inborn errors of pyrimidine metabolism

Papers (54)：

Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, et al. Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. JIMD reports. 2023. 64. 1. 3-9
Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. JIMD reports. 2022. 63. 6. 575-580
Yuji Matsumoto, Yohei Ikezumi, Tomomi Kondoh, Katsuyuki Yokoi, Yoko Nakajima, Naonori Kumagai, Takema Kato, Hiroki Kurahashi, Tetsuya Ito. An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. The Tohoku journal of experimental medicine. 2022. 258. 3. 183-193
Kaori Maruwaka, Yoko Nakajima, Takaharu Yamada, Taihei Tanaka, Rika Kosaki, Hidehito Inagaki, Kenjiro Kosaki, Hiroki Kurahashi. Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. American journal of medical genetics. Part A. 2022. 188. 7. 2246-2250
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, et al. 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. 日本小児科学会雑誌. 2022. 126. 2. 281-281

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MISC (184)：

若松学, 村松秀城, 横井克幸, 中島葉子, 山下大紀, 佐治木大知, 前村遼, 津村悠介, 山森彩子, 今屋雅之, et al. 新規新生児マススクリーニングで診断し,乳児期にHLAハプロ移植を施行したムコ多糖症I型. 日本小児科学会雑誌. 2023. 127. 2. 244-244
中島葉子. 【小児疾患診療のための病態生理 3 改訂第6版】先天代謝異常メチルマロン酸血症. 小児内科. 2022. 54. 増刊. 106-111
中島葉子. メチルマロン酸血症の食事療法肝移植後の食事管理も含めて. 日本先天代謝異常学会雑誌. 2022. 38. 153-153
前田康博, 中島葉子, 横井克幸, 伊藤哲哉. メチルマロン酸血症における新生児マススクリーニング時のC3値および酵素活性値と症例の関連. 日本先天代謝異常学会雑誌. 2022. 38. 184-184
若松学, 小島大英, 村松秀城, 奥野友介, 片岡伸介, 中島葉子, 酒井好美, 伊藤哲哉, 高橋義行. 愛知県におけるTREC/KRECを用いた新生児マススクリーニング検査. 日本免疫不全・自己炎症学会雑誌. 2022. 1. 2. 84-84

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Books (3)：

先天代謝異常ハンドブック
中山書店 2013
先天代謝異常ハンドブック
中山書店 2013
有機酸代謝異常ガイドブック
診断と治療社 2011

Lectures and oral presentations (6)：

Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing
(15th International Symposium on Purine and Pyrimidine Metabolism in Man 2013)
Clinical, biochemical and genetic findings in two patients with dihydropyrimidinase deficiency
(SSIEM (society for the study of inborn errors of metabolism) 2012 Annual Symposium 2012)
Molecular diagnosis for pyrimidine metabolic disorder.
(Congress of China-Japan inborn error metabolism 2012)
Hypergalactosaemia in Patients with Congenital Portosystemic Shunt Detected by Neonatal Screening
(The 1st Asian Congress for Inherited Metabolic Diseases 2010)
Case study of methylmalonic acidemia presenting with acute seizures associated with basal nuclei lesions 20 months after liver transplantation from a living donor
(SSIEM (society for the study of inborn errors of metabolism) 2010 annual Symposium 2010)

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Professional career (1)：

博士(医学) (名古屋市立大学大学院医学研究科)

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