Yasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, Yoko Nakajima, Sayaka Suzuki-Ajihara, Kei Murayama, Toju Tanaka, Chikahiko Numakura, Takashi Hamazaki, Noboru Igarashi, et al. Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan. Genetics in medicine : official journal of the American College of Medical Genetics. 2024. 26. 8. 101165-101165
Michiru Sasaki, Tohru Okanishi, Tsuyoshi Matsuoka, Ayumi Yoshimura, Shinsuke Maruyama, Tadashi Shiohama, Hiroki Hoshino, Tatsuo Mori, Hisakazu Majima, Hiroshi Matsumoto, et al. Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series. Pediatric neurology. 2024. 157. 29-38
Jun Kido, Johannes Häberle, Toju Tanaka, Masayoshi Nagao, Yoichi Wada, Chikahiko Numakura, Ryosuke Bo, Hiromi Nyuzuki, Sumito Dateki, Shinsuke Maruyama, et al. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening. Journal of inherited metabolic disease. 2023
Takami Ishizuka, Hirofumi Komaki, Yasuko Asahina, Harumasa Nakamura, Norio Motohashi, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Chihiro Yonee, Shinsuke Maruyama, et al. Systemic administration of the antisense oligonucleotide NS-089/NCNP-02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial. Neuropsychopharmacology reports. 2023. 43. 2. 277-286