Rare Diseases Day 2013 raises awareness of rare diseases and their impact on the daily lives of patients and their families all over the world. This series highlights the research published in Orphanet Journal of Rare Diseases and Parasites & Vectors on some of the genetic and infectious rare diseases that affect humans.
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme r...