Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

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第一作者： Madoka,Mori-Yoshimura

第一单位： Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

作者： Madoka,Mori-Yoshimura ^[1] ; Naoki,Suzuki ^[2] ; Masahisa,Katsuno ^[3] ; Masanori P,Takahashi ^[4] ; Satoshi,Yamashita ^[5] ; Yasushi,Oya ^[6] ; Atsushi,Hashizume ^[1] ; Shinichiro,Yamada ^[3] ; Masayuki,Nakamori ^[4] ; Rumiko,Izumi ^[3] ; Masaaki,Kato ^[5] ; Hitoshi,Warita ^[2] ; Maki,Tateyama ^[2] ; Hiroshi,Kuroda ^[2] ; Ryuta,Asada ^[2] ; Takuhiro,Yamaguchi ^[2] ; Ichizo,Nishino ^[7] ; Masashi,Aoki ^[8]

作者单位： Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. ^[1] Department of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Machi, Aoba-Ku, Sendai, 980-8574, Japan. ^[2] Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. ^[3] Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Japan. ^[4] Department of Neurology, Osaka University Hospital, Osaka, Japan. ^[5] Department of Neurology, Kumamoto University Hospital, Kumamoto, Japan. ^[6] Innovative and Clinical Research Promotion Center, Gifu University Hospital, Gifu, Japan. ^[7] Division of Biostatistics, Tohoku University Graduate School of Medicine, Sendai, Japan. ^[8] Department of Neuromuscular Research, National Institute of Neuroscience and Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. ^[9] Department of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-Machi, Aoba-Ku, Sendai, 980-8574, Japan. aokim@med.tohoku.ac.jp. ^[10]

关键词 Aceneuramic acid Efficacy confirmation study GNE myopathy Ultra-orphan disease

主题词人类(Humans);N-乙酰神经氨酸(N-Acetylneuraminic Acid);日本(Japan);远端型肌营养不良症(Distal Myopathies);肌(Muscles);双盲法(Double-Blind Method);治疗结果(Treatment Outcome)

DOI 10.1186/s13023-023-02850-y

PMID 37568154

发布时间 2023-11-21

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