Item type |
学術雑誌論文 / Journal Article(1) |
公開日 |
2013-04-01 |
タイトル |
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タイトル |
Cerebral hemorrhage in Fabry's disease |
言語 |
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言語 |
eng |
DOI |
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関連識別子 |
https://doi.org/10.1038/jhg.2010.18 |
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関連名称 |
10.1038/jhg.2010.18 |
キーワード |
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主題 |
alpha-galactosidase A, Fabry's disease, cerebral hemorrhage, cerebral infarction, stroke |
資源タイプ |
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資源 |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
著者 |
Nakamura, Katsuya
Sekijima, Yoshiki
Nakamura, Kimitoshi
Hattori, Kiyoko
Nagamatsu, Kiyoshiro
Shimizu, Yusaku
Ushiyama, Masao
Endo, Fumio
Fukushima, Yoshimitsu
Ikeda, Shu-ichi
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信州大学研究者総覧へのリンク |
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氏名 |
Sekijima, Yoshiki |
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URL |
https://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html |
信州大学研究者総覧へのリンク |
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氏名 |
Fukushima, Yoshimitsu |
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URL |
https://soar-rd.shinshu-u.ac.jp/profile/ja.OUnVuUkh.html |
出版者 |
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出版者 |
NATURE PUBLISHING GROUP |
引用 |
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内容記述 |
JOURNAL OF HUMAN GENETICS. 55(4):259-261 (2010) |
書誌情報 |
JOURNAL OF HUMAN GENETICS
巻 55,
号 4,
p. 259-261,
発行日 2010-04
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抄録 |
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内容記述 |
Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease who developed cerebral hemorrhage. One patient had classic type Fabry's disease with p.Ala37Val mutation and others had cerebrovascular variant with p.Glu66Gln mutation. Degeneration of the cerebral small arteries secondary to deposition of glycosphingolipids and aging, in addition to hypertension and antiplatelet/anticoagulant agents, are considered to be contributing factors for hemorrhage. Fabry's disease is frequently associated with not only ischemic but also hemorrhagic stroke, especially in elderly patients. Journal of Human Genetics ( 2010) 55, 259-261; doi:10.1038/jhg.2010.18; published online 19 March 2010 |
資源タイプ(コンテンツの種類) |
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内容記述 |
Article |
ISSN |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
1434-5161 |
書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11206160 |
PubMed |
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関連識別子 |
https://pubmed.ncbi.nlm.nih.gov/20300124 |
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関連名称 |
20300124 |
権利 |
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権利情報 |
Copyright© 2010 The Japan Society of Human Genetics |
出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
WoS |
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URL |
http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000277017900013 |