群馬大学 · 医学部 · 助教

研究キーワード小児内分泌・新生児スクリーニング・先天代謝異常症・くる病・酵素補充療法

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• FGF23-related hypophosphatemic rickets preceding the onset of systemic lupus erythematosus: A juvenile case., Tabei Yoko;Ohtsu Yoshiaki;Shimada Masaharu;Wada Aya;Hamajima Emi;Osawa Yoshimitsu;Takizawa Takumi, 2024年01月, Clinical case reports, Clinical case reports, 12, 12024 · 論文
• Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype., Yamada Kenji;Osawa Yoshimitsu;Kobayashi Hironori;Bo Ryosuke;Mushimoto Yuichi;Hasegawa Yuki;Yamaguchi Seiji;Taketani Takeshi, 2022年11月, Molecular genetics and metabolism reports, Molecular genetics and metabolism reports, 332022 · 論文
• The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening., Osawa Yoshimitsu;Kobayashi Hironori;Tajima Go;Hara Keiichi;Yamada Kenji;Fukuda Seiji;Hasegawa Yuki;Aisaki Junko;Yuasa Miori;Hata Ikue;Okada Satoshi;Shigematsu Yosuke;Sasai Hideo;Fukao Toshiyuki;Takizawa Takumi;Yamaguchi Seiji;Taketani Takeshi, 2022年03月, Molecular genetics and metabolism, Molecular genetics and metabolism, 136, 12022 · 論文
• Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report., Osawa Yoshimitsu;Wada Aya;Ohtsu Yoshiaki;Yamada Kenji;Takizawa Takumi, 2020年05月, Molecular genetics and metabolism reports, Molecular genetics and metabolism reports, 242020 · 論文

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