Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms

by Yasuko Fujisawa, Taichi Kitaoka, Hiroyuki Ono, Shinichi Nakashima, Keiichi Ozono, Tsutomu Ogata
Published 2020-12-01

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

by Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Published 2020-06-01

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

by Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Published 2018-02-01

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

Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.

by Eleonora Napoli, Catherine Ross-Inta, Sarah Wong, Connie Hung, Yasuko Fujisawa, Danielle Sakaguchi, James Angelastro, Alicja Omanska-Klusek, Robert Schoenfeld, Cecilia Giulivi
Published 2012-01-01

Time course of conjunctival hyperemia induced by omidenepag isopropyl ophthalmic solution 0.002%: a pilot, comparative study versus ripasudil 0.4%

by Yoshiaki Kiuchi, Etsuko Terao, Yasuko Fujisawa, Kanae Ueda, Yui Kobayashi, Satomi Oogi, Saki Dote, Miku Shiraishi, Hitoshi Tabuchi, Tsuyoshi Yoneda, Atsuki Fukushima
Published 2020-10-01

Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young

by Yuki Hosokawa, Shinji Higuchi, Rie Kawakita, Ikue Hata, Tatsuhiko Urakami, Tsuyoshi Isojima, Kei Takasawa, Yohei Matsubara, Haruo Mizuno, Yoshihiro Maruo, Katsuyuki Matsui, Katsuya Aizu, Kazuhiko Jinno, Shunsuke Araki, Yasuko Fujisawa, Koji Osugi, Chikako Tono, Yasuhiro Takeshima, Tohru Yorifuji
Published 2019-11-01