文献

J-GLOBAL ID：201702254523387125   整理番号：17A0359498

肥大性心筋症と診断した日本人男性患者でのファブリー病の頻度および臨床的特徴

Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy

著者 (16件)： Kubo Toru (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Ochi Yuri (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Baba Yuichi (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Hirota Takayoshi (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Tanioka Katsutoshi (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Yamasaki Naohito (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan) ,  Yoshimitsu Makoto (Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Higuchi Koji (Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Takenaka Toshihiro (Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Nakajima Kimiko (Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan) ,  Togawa Tadayasu (Department of Functional Bioanalysis, Meiji Pharmaceutical University, Tokyo, Japan) ,  Tsukimura Takahiro (Department of Functional Bioanalysis, Meiji Pharmaceutical University, Tokyo, Japan) ,  Sano Shigetoshi (Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan) ,  Tei Chuwa (Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Sakuraba Hitoshi (Department of Clinical Genetics, Meiji Pharmaceutical University, Tokyo, Japan) ,  Kitaoka Hiroaki (Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan)
資料名： Journal of Cardiology  (Journal of Cardiology)
巻： 69  号： 1  ページ： 302-307  発行年： 2017年01月 
JST資料番号： W2218A  ISSN： 0914-5087  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 背景:説明できない左心室肥大(LVH)を示す,日本人患者にお...

シソーラス用語： *肥大型心筋症 ,...
準シソーラス用語： 発症頻度 ,...

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著者キーワード (3件)： Fabry disease ,  Hypertrophic cardiomyopathy ,  Prevalence

分類 (2件)： 循環系の診断  (GJ02000V) ,  分子遺伝学一般  (EC02010J)

引用文献 (27件)：

• Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46.
• Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008;372:1427-35.
• Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Saluraba H, Tanaka H. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
• Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y, Yoshida H, Horinouchi M, Tabata K, Yonezawa S, Yoshimitsu M, Higuchi K, Nakao S, Anan R, Minagoe S, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 2008;51:50-9.
• Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9-16.

タイトルに関連する用語 (7件)： 肥大性心筋症 ,  診断 ,  日本人 ,  男性 ,  患者 ,  ファブリー病 ,  頻度