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

6 Apr 2018

Abstract excerpt

BACKGROUND: The 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. METHODS: Children were recruited from 20 departments of pediatrics or children's hospitals in Shandong Province,...

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PMID: 29625627
DOI: 10.1186/s13023-018-0782-x

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