Rchr
J-GLOBAL ID:201501004732132059   Update date: Nov. 11, 2024

Yamada Masafumi

Yamada Masafumi
Affiliation and department:
Other affiliations (1):
  • Hokkaido University
Research field  (1): Fetal medicine/Pediatrics
Research keywords  (6): 栄養 ,  Newborn screening ,  Hereditary folate malabsorption ,  Inborn errors of immunity ,  Primary immunodeficiency diseases ,  Pediatrics
Research theme for competitive and other funds  (6):
  • 2020 - 2024 遺伝性葉酸吸収不全症の早期の診断と治療開始による予後の改善を目的とした研究
  • 原発性免疫不全症候群の診断基準重症度分類および診療ガイドラインの確立に関する研究
  • 自己炎症性疾患とその類縁疾患の全国診療体制整備、重症度分類、診療ガイドライン確立に関する研究
  • 慢性肉芽腫症腸炎に対する小児用サリドマイド製剤の実用化に向けた研究
  • 核酸検出等の方法を用いた原発性免疫不全症等治療可能な新生児・小児期疾患に対する新生児マス・スクリーニング法の開発
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Papers (100):
  • Masahiro Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki, Hiroki Ohata, Shimaa Said Mohamed Ali Abdrabou, Saori Sawai, Yukayo Terashita, Yuko Cho, Hideki Muramatsu, et al. Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG. Immunological medicine. 2024. 1-8
  • Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, et al. A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. The Journal of experimental medicine. 2024. 221. 6
  • Shogo Wada, Takeshi Namiki, Aoi Ebata, Takuya Takeichi, Masashi Akiyama, Masafumi Yamada, Atsushi Hijikata, Yutaka Shimomura, Hirokazu Kanegane, Naoko Okiyama. Generalized pustular psoriasis that developed in a patient with an NFKB2 variant. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 2024. 22. 1. 118-120
  • Masafumi Onodera, Toru Uchiyama, Tadashi Ariga, Masafumi Yamada, Takako Miyamura, Hironori Arizono, Tomohiro Morio. Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study. Immunity, inflammation and disease. 2023. 11. 7. e917
  • Atsushi Yamaguchi, Yuki Tazawa, Masashiro Ueki, Masafumi Yamada, Atsushi Manabe, Mitsuru Sugawara, Yoh Takekuma. Therapeutic Drug Monitoring of Oral Voriconazole in an Infant Less than Six Months of Age and Pharmacokinetics Changes Induced by Development of CYP2C19 in the Growth Process: A Novel Case Report. YAKUGAKU ZASSHI. 2023. 143. 6. 545-549
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MISC (132):
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Professional career (1):
  • 博士(医学) (北海道大学)
Work history (12):
  • 2022/04 - 現在 北海道大学大学院医学研究院 小児科学教室 招へい客員教授
  • 2022/04 - 現在 Department of Food and Human Wellness, Rakuno Gakuen University Department of Medicine and Physiology Professor
  • 2019/08 - 2022/03 Faculty of Medicine and Graduate School of Medicine, Hokkaido University Department of Pediatrics Associate Professor
  • 2017/04 - 2019/07 Faculty of Medicine and Graduate School of Medicine, Hokkaido University Department of Pediatrics Lecturer
  • 2016/01 - 2017/03 Graduate School of Medicine, Hokkaido University Department of Pediatrics Lecturer
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