Fabry disease: results of the first UK hemodialysis screening study.
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder in which deficiency of α-Galactosidase A (α-Gal A), leads to accumulation of glycosphingolipids in the vascular endothelium, kidneys and heart. Males with classical disease present in childhood, however some individuals with low levels of α-Gal A activity present atypically with adult onset renal impairment. Screening studies in patients with established end-stage renal failure (ESRF) suggest that up to 1.5% of patients have...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date: