Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

by Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito, Hiroki Kurahashi
Published 2018-12-01

Novel ARG1 variants identified in a patient with arginase 1 deficiency

by Katsuyuki Yokoi, Yoko Nakajima, Toshihiro Yasui, Makoto Yoshino, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Published 2021-02-01

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

by Katsuyuki Yokoi, Yoko Nakajima, Yasuko Shinkai, Yoshimi Sano, Mototaka Imamura, Tomoyuki Akiyama, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi
Published 2019-12-01

Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders

by Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno, Katsuyuki Yokoi, Satoshi Nakano, Saeko Hirai, Yuka Hiraoka, Yoshiki Miura, Mitsuyoshi Suzuki, Hiroyuki Kusuhara, Hisamitsu Hayashi
Published 2021-12-01