Fabry disease: a review of current management strategies.

  title={Fabry disease: a review of current management strategies.},
  author={Atuhl Mehta and Matthias Beck and François Eyskens and Claudio Feliciani and Iikka Kantola and Uma Ramaswami and Arndt Rolfs and Alberto Rivera and Stephen Waldek and Dominique Paul Germain},
  journal={QJM : monthly journal of the Association of Physicians},
  volume={103 9},
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturbance, transient ischaemic attacks and strokes. Additional effects on the skin, eyes, ears, lungs and… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS