Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in...

by Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho
Published 2020-12-01

Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan

by Hideyuki Iwayama, Tatsushi Tanaka, Kohei Aoyama, Masaharu Moroto, Shinsuke Adachi, Shinsuke Adachi, Yasuko Fujisawa, Hiroki Matsuura, Kyoko Takano, Haruo Mizuno, Akihisa Okumura
Published 2021-07-01

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

by Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-ichi Goto, Noriko Aida, Hitoshi Osaka
Published 2014-01-01