Angiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy
Angiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy
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DOI：
10.1080/080352502762457824
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发表时间：
2002-01-01
期刊：
影响因子：
3.8
通讯作者：
Fabry, H
中科院分区：
文献类型：
--
作者：
Fabry, H
本文简要介绍了法布里病的历史概况。1898年首次描述，称为弥漫性身体血管角化瘤，过去100年来的一系列观察和开创性临床研究使我们对这种疾病有了现在的了解。在此期间的主要里程碑进行了描述，因为是导致成功引进酶替代疗法的工作。
This paper gives a brief historical overview of Fabry disease. First described in 1898 and called angiokeratoma corporis diffusum, a succession of observations and pioneering clinical research over the past 100 years has led to our present understanding of the disease. The major milestones during this time are described, as is the work that resulted in the Successful introduction of enzyme replacement therapy.