Angiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

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.