Article
Thrombosis in Japanese patients with Fabry disease.
Journal of the neurological sciences - 15 Aug 2009
Utsumi Kouichi, Ueda Kae, Watanabe Megumi, Sakamaki Masanori, Arii Kazumasa, Yamazaki Mineo, Komaba Yuichi, Katsura Ken-Ichiro, Iino Yasuhiko, Katayama Yasuo
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme alpha-galactosidase (alpha-Gal) A. It has been postulated that the accumulation of globotriaosylceramide in the endothelial cells of blood vessels may lead to thrombosis of the brain and other tissues. Recently, enzyme replacement therapy (ERT) for Fabry disease is available. A high incidence of thrombotic...
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