Article
A validated disease severity scoring system for Fabry disease.
Molecular genetics and metabolism - 1 Mar 2010
Giannini Edward H, Mehta Atul B, Hilz Max J, Beck Michael, Bichet Daniel G, Brady Roscoe O, West Michael, Germain Dominique P, Wanner Christoph, Waldek Stephen, Clarke Joe T R, Mengel Eugen, Strotmann Jörg M, Warnock David G, Linhart Ales
Abstract excerpt
Fabry disease is a lysosomal storage disorder with onset of adverse signs and symptoms usually during childhood and progressive life-threatening decline in organ functions. A validated and feasible Fabry disease severity scoring system (DS3) is needed to reliably quantify the disease burden, monitor disease progression and treatment response, and compare disease status among patient cohorts in clinical studies....
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