A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

摘要

BackgroundThe study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population.