期刊
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
卷 42, 期 4, 页码 455-462出版社
WILEY
DOI: 10.1111/j.1365-2362.2011.02614.x
关键词
Diagnostic; Fabry disease; lysosomal storage disorder; therapy; women
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Design Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively. Conclusions This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据