Ishii Kanako

Research theme for competitive and other funds (5)：

2017 - 2020 Identification of novel genes responsible for congenital portosystemic venous shunt
2012 - 2017 Analysis of growth and differentiation network system for immune cells of adipocyte by hormone during childhood
2011 - 2013 Metabolic and immunological impacts of growth hormone treatment in children with short stature born small for gestational age
2009 - 2011 Systematic screening for the genes regulating lipid metabolism : cohorts of childhood and adulthood
2006 - 2007 クレチン症新生児マススクリーニングで発見された高TSH血症の遺伝子解析

Papers (33)：

Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, et al. Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review. Molecular genetics & genomic medicine. 2024. 12. 4. e2427
Hiroi Eguchi, Toshihiko Kakiuchi, Masanori Nishi, Kanako Kojima-Ishii, Kei Nishiyama, Yuhki Koga, Muneaki Matsuo. Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation. Frontiers in pediatrics. 2022. 10. 898531-898531
Jun Kido, Johannes Häberle, Keishin Sugawara, Toju Tanaka, Masayoshi Nagao, Takaaki Sawada, Yoichi Wada, Chikahiko Numakura, Kei Murayama, Yoriko Watanabe, et al. Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease. 2022. 45. 3. 431-444
Vlad Tocan, Yuichi Mushimoto, Kanako Kojima-Ishii, Akane Matsuda, Naoko Toda, Daisuke Toyomura, Yuichiro Hirata, Masafumi Sanefuji, Takaaki Sawada, Yasunari Sakai, et al. The earliest enzyme replacement for infantile-onset Pompe disease in Japan. PEDIATRICS INTERNATIONAL. 2022. 64. 1
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, et al. The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. Molecular genetics & genomic medicine. 2020. 8. 4. e1175

ｍore...

MISC (2)：

TOCAN Vlad, 大久保一宏, 黒川麻里, 鳥尾倫子, 大山紀子, 戸田尚子, 石井加奈子, 坂本竜一, 仲座真希, 堀江里歩, et al. CACNA1S遺伝子にp.V876E変異を認めた早期発症の低カリウム性周期性四肢麻痺の母児例. 日本小児内分泌学会学術集会プログラム・抄録集. 2018. 52nd
安岡和昭, 市山正子, 落合正行, 石井加奈子, 井原健二, 原寿郎, 福嶋恒太郎, 小川昌宣, 山本幸代. 21水酸化酵素欠損女児と出生前診断され胎児治療を行った1例. 日本小児科学会雑誌. 2013. 117. 8. 1340-1340

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