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Research of Faber’s disease in Spain

by informer
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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.

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