Roi Suarez

Sep 4, 2023 | paperity.org | Miguel Ángel |de Pedro |Ivan Pérez |Iván Pérez |Roi Suarez

Orphanet Journal of Rare Diseases, Aug 2023 The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain.