Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms

@article{Perrot2002FabryDF,
  title={Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms},
  author={A. Perrot and K. Osterziel and M. Beck and R. Dietz and C. Kampmann},
  journal={Herz},
  year={2002},
  volume={27},
  pages={699-702}
}
  • A. Perrot, K. Osterziel, +2 authors C. Kampmann
  • Published 2002
  • Medicine
  • Herz
  • Pathogenesis: Fabry disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A. The enzyme deficiency results in accumulation of glycosphingolipids in the lysosomes n nearly all cell types and tissues leading to a multisystem disease. Manifestations include painful crisis, angiokeratomas, corneal dystrophy, and hypohydrosis. The severe renal, cerebrovascular, and cardiac involvement is predominantly responsible for premature mortality in Fabry… CONTINUE READING
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