Newborn screening programs are the best way to diagnose Fabry disease early in infancy — enabling timely enzyme replacement therapy…
Articles by Ana Pena, PhD
Certain cells in patients with Fabry disease seem to age more rapidly than in healthy people, which may explain…
Rats that mimic Fabry disease develop eye symptoms like those observed in human patients. These animals can be used to…
Few nephrologists in Russia are aware of Fabry disease, which is a problem that could be addressed by…
Patients with mild Fabry disease do not have a higher prevalence or severity of …
Although most women with Fabry disease have mild but typical manifestations, many are not…
Newborn screening with enzymatic testing can effectively detect Fabry disease in infants, a…
Genetic and enzymatic screening of people in Spain revealed that the real prevalence of Fabry disease is likely…
A specific mutation in the GLA gene is associated with late-onset Fabry disease, and primarily affects…
Personalized care with timely treatment and regular monitoring should be given to adults with Fabry disease to prevent irreversible…