檢索結果 - Hitoshi Sakuraba
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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the<i>ARSB</i>gene 由 Rosella Tomanin, Litsa Karageorgos, Alessandra Zanetti, Moeenaldeen AlSayed, Mitch Bailey, Nicole L. Miller, Hitoshi Sakuraba, John J. Hopwood
出版 2018Revisão -
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Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer 由 Hiroshi Takahashi, Yukihiko Hirai, Makoto Migita, Yoshihiko Seino, Yuh Fukuda, Hitoshi Sakuraba, Ryoichi Kase, Toshihide Kobayashi, Yasuhiro Hashimoto, Takashi Shimada
出版 2002Artigo -
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Distribution and Transport of Cholesterol-rich Membrane Domains Monitored by a Membrane-impermeant Fluorescent Polyethylene Glycol-derivatized Cholesterol 由 Satoshi B. Sato, Kumiko Ishii, Asami Makino, Kazuhisa Iwabuchi, Akiko Yamaji‐Hasegawa, Yukiko Senoh, Isao Nagaoka, Hitoshi Sakuraba, Toshihide Kobayashi
出版 2004Artigo -
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Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice 由 Hitoshi Sakuraba, Mai Murata-Ohsawa, Ikuo Kawashima, Youichi Tajima, Masaharu Kotani, Toshio Ohshima, Yasunori Chiba, Minako Takashiba, Yoshifumi Jigami, Tomoko Fukushige, Tamotsu Kanzaki, Kohji Itoh
出版 2005Artigo -
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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II 由 M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser
出版 2003Artigo
相關主題
Biology
Disease
Medicine
Biochemistry
Internal medicine
Fabry disease
Gene
Molecular biology
Chemistry
Genetics
Alpha-galactosidase
Endocrinology
Enzyme
Enzyme replacement therapy
Receptor
Cell biology
Computational biology
Fabry's disease
Globotriaosylceramide
Incidence (geometry)
Mutant
Mutation
Optics
Pathology
Physics
Angiokeratoma
Cholesterol
Genotype
Lysosomal storage disease
Phenotype