Fibrosis: a key feature of Fabry disease with potential therapeutic implications

  title={Fibrosis: a key feature of Fabry disease with potential therapeutic implications},
  author={Frank Weidemann and Maria Dolores Sanchez-Ni{\~n}o and Juan Manuel Politei and J P Oliveira and Christoph Wanner and David G. Warnock and Alberto Ortiz},
  booktitle={Orphanet journal of rare diseases},
Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 4 times over the past 90 days. VIEW TWEETS
27 Citations
108 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 27 extracted citations


Publications referenced by this paper.
Showing 1-10 of 108 references

Similar Papers

Loading similar papers…