Fabry disease: a review of current management strategies.

@article{Mehta2010FabryDA,
  title={Fabry disease: a review of current management strategies.},
  author={A. Mehta and M. Beck and F. Eyskens and C. Feliciani and I. Kantola and U. Ramaswami and A. Rolfs and A. Rivera and S. Waldek and D. Germain},
  journal={QJM : monthly journal of the Association of Physicians},
  year={2010},
  volume={103 9},
  pages={
          641-59
        }
}
  • A. Mehta, M. Beck, +7 authors D. Germain
  • Published 2010
  • Medicine
  • QJM : monthly journal of the Association of Physicians
  • 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
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