Endothelial markers and homocysteine in patients with classic Fabry disease.

@article{Demuth2002EndothelialMA,
  title={Endothelial markers and homocysteine in patients with classic Fabry disease.},
  author={Karine Demuth and Dominique P Germain},
  journal={Acta paediatrica (Oslo, Norway : 1992). Supplement},
  year={2002},
  volume={91 439},
  pages={57-61}
}
AIM Fabry disease is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. It is a multisystem disorder characterized by progressive renal insufficiency, with added morbidity from cardio- and cerebrovascular involvement. The recent availability of genetically engineered enzyme offers an effective targeted treatment approach, but also emphasizes the need for surrogate markers to delineate organ damage and monitor the… CONTINUE READING