Fabry disease is a multisystem lysosomal memory disease caused by α-galactosidase A damage. The incidence of this rare disease is underestimated due to delayed diagnosis. Following an observational analysis of 805 dry blood samples from patients with clinical symptoms or a family history of this pathology that were collected from 109 Spanish hospitals, 77 newly diagnosed mutant patients and 2 patients with a possible new mutation were found. More information about the new discoveries you can find here.
CORNELIA DE LANGE SYNDROME ASSOCIATION
Conception of an Expert Advisory Board