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A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia ABCG5和ABCG8致病变异及植物甾醇血症临床特征的目录 Okada, Takeshi; Yamashita, Shizuya; Tada, Hayato; Tsukamoto, Kazuhisa; Togo, Masako; Kawashiri, Masa-aki; Nakamura, Kimitoshi; Dobashi, Kazushige; Ikewaki, Katsunori; Yoshida, Hiroshi; Harada-Shiba, Mariko 分享 收藏
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Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI Konomura, Keiko; Numakura, Chikahiko; Nakamura-Utsunomiya, Akari; Hoshino, Eri; Tajima, Go; Kobayashi, Hironori; Nakamura, Kimitoshi; Shimozawa, Nobuyuki; Bo, Ryosuke; Shiroiwa, Takeru; Shigematsu, Yosuke; Fukuda, Takashi 分享 收藏
Transitional Medicine of Intractable Primary Dyslipidemias in Japan Ogura, Masatsune; Okazaki, Sachiko; Okazaki, Hiroaki; Tada, Hayato; Dobashi, Kazushige; Nakamura, Kimitoshi; Matsunaga, Keiji; Miida, Takashi; Minamino, Tetsuo; Yokoyama, Shinji; Harada-Shiba, Mariko 分享 收藏
The model of citrin deficiency: Adopting a new approach to rare diseases Yu, Barbara; Kuek, Li Eon; Vukovic, Toni; Makris, Georgios; Kido, Jun; Matsumoto, Shirou; Nakamura, Kimitoshi; Yau, Winifred; Yen, Paul; Gonzalez-Moreno, Luis; Satrustegui, Jorgina; Contreras, Laura; Saheki, Takeyori; Tai, Yen How; Tavoulari, Sotiria; Kunji, Edmund; Haberle, Johannes 分享 收藏
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Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil Eto, Yoshikatsu; Giugliani, Roberto; Nakamura, Kimitoshi; Sakai, Norio; Martins, Ana Maria; Tanizawa, Kazunori; So, Sairei; Yamamoto, Tatsuyoshi; Cunegundes, Ricardo; Ikeda, Toshiaki; Moriuchi, Hiroaki; Schmidt, Mathias; Sato, Yuji 分享 收藏
Evaluation of Neutralizing Activity against Omicron Subvariants in BA.5 Breakthrough Infection and Three-Dose Vaccination Using a Novel Chemiluminescence-Based, Virus-Mediated Cytopathic Assay Toyoda, Mako; Tan, Toong Seng; Motozono, Chihiro; Barabona, Godfrey; Yonekawa, Akiko; Shimono, Nobuyuki; Minami, Rumi; Nagasaki, Yoji; Miyashita, Yusuke; Oshiumi, Hiroyuki; Nakamura, Kimitoshi; Matsushita, Shuzo; Kuwata, Takeo; Ueno, Takamasa 分享 收藏