Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan

por Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida, Jovelle Fernandez
Publicado 2021

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

por Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publicado 2021

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

por Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publicado 2021

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

por Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publicado 2021