Hasil Pencarian - Yasuhiko Ago

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  1. 1
    Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a

    Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a oleh Hiroyuki Iijima, Yasuhiko Ago, Ryoji Fujiki, Takaaki Takayanagi, Mitsuru Kubota

    Diterbitkan 2021-03-01
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  2. 2
    Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy

    Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy oleh Yasuhiko Ago, Estera Rintz, Krishna Sai Musini, Zhengyu Ma, Shunji Tomatsu

    Diterbitkan 2024-01-01
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  3. 3
    Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

    Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy oleh Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu

    Diterbitkan 2021-11-01
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  4. 4
    Evading the AAV Immune Response in Mucopolysaccharidoses

    Evading the AAV Immune Response in Mucopolysaccharidoses oleh Matthew Piechnik, Kazuki Sawamoto, Hidenori Ohnishi, Norio Kawamoto, Yasuhiko Ago, Shunji Tomatsu

    Diterbitkan 2020-05-01
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  5. 5
    A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia

    A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia oleh Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao

    Diterbitkan 2019-07-01
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  6. 6
    Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets

    Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets oleh Andrés Felipe Leal, Eliana Benincore-Flórez, Estera Rintz, Angélica María Herreño-Pachón, Betul Celik, Yasuhiko Ago, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

    Diterbitkan 2022-12-01
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  7. 7
    Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders

    Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders oleh Paige C. Amendum, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, Estera Rintz, Jobayer Hossain, Wendi Xiao, Shunji Tomatsu

    Diterbitkan 2021-08-01
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  8. 8
    Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

    Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans oleh Nivethitha Arunkumar, Dung Chi Vu, Shaukat Khan, Hironori Kobayashi, Thi Bich Ngoc Can, Tsubasa Oguni, Jun Watanabe, Misa Tanaka, Seiji Yamaguchi, Takeshi Taketani, Yasuhiko Ago, Hidenori Ohnishi, Sampurna Saikia, José V. Álvarez, Shunji Tomatsu

    Diterbitkan 2021-07-01
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  9. 9
    ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

    ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice oleh Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

    Diterbitkan 2021-04-01
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