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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening por Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura
Publicado em 2020-11-01
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Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review por Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga
Publicado em 2024-04-01
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