Resultados da busca - Hitoshi Sakuraba
- Mostrando 1 - 17 resultados de 17
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Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form por Mohammad Arif Hossain, Takanobu Otomo, Seiji Saito, Kazuki Ohno, Hitoshi Sakuraba, Yusuke Hamada, Keiichi Ozono, Norio Sakai
Publicado em 2013Artigo -
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Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis por Kazuhiko Matsuoka, Tomomi Tamura, Daisuke Tsuji, Yukie Dohzono, Keisuke Kitakaze, Kazuki Ohno, Seiji Saito, Hitoshi Sakuraba, Kohji Itoh
Publicado em 2011Artigo -
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Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. por Harold S. Bernstein, David F. Bishop, Kenneth H. Astrin, Ruth Kornreich, Christine M. Eng, Hitoshi Sakuraba, Robert J. Desnick
Publicado em 1989Artigo -
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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the<i>ARSB</i>gene por Rosella Tomanin, Litsa Karageorgos, Alessandra Zanetti, Moeenaldeen AlSayed, Mitch Bailey, Nicole L. Miller, Hitoshi Sakuraba, John J. Hopwood
Publicado em 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 por Hiroshi Takahashi, Yukihiko Hirai, Makoto Migita, Yoshihiko Seino, Yuh Fukuda, Hitoshi Sakuraba, Ryoichi Kase, Toshihide Kobayashi, Yasuhiro Hashimoto, Takashi Shimada
Publicado em 2002Artigo -
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Distribution and Transport of Cholesterol-rich Membrane Domains Monitored by a Membrane-impermeant Fluorescent Polyethylene Glycol-derivatized Cholesterol por Satoshi B. Sato, Kumiko Ishii, Asami Makino, Kazuhisa Iwabuchi, Akiko Yamaji‐Hasegawa, Yukiko Senoh, Isao Nagaoka, Hitoshi Sakuraba, Toshihide Kobayashi
Publicado em 2004Artigo -
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An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy por Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda, Chihaya Kodama, Akihiro Tanaka, Minoru Tahara, Aichi Yoshida, Masaru Kuriyama, Hidemasa Hayashibe, Hitoshi Sakuraba, Hiromitsu Tanaka
Publicado em 1995Artigo -
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Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice por 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
Publicado em 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 por 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
Publicado em 2003Artigo
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Assuntos relacionados
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