Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

@article{Terryn2008TwotierAF,
  title={Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.},
  author={Wim Terryn and Bruce Poppe and Birgitte Wuyts and Kathleen Bm Claes and Bart Maes and Dierik L Verbeelen and Raymond Camille Vanholder and Koen De Boeck and Norbert R Lameire and Anne De Paepe and Gert De Schoenmakere},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2008},
  volume={23 1},
  pages={294-300}
}
INTRODUCTION Fabry's disease (AFD) is an X-linked lysosomal storage disease, resulting from a deficiency in alpha-galactosidase A (AGALA). Untreated, this leads to precocious failure of vital organ function and death. As enzyme replacement therapy is available, it is of vital importance that affected individuals can be traced. MATERIALS AND METHODS We set up a screening in the Flemish haemodialysis population using a two-tier approach. The first tier was a determination of alpha-galactosidase… CONTINUE READING