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

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

Abstract 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 popu...

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Bibliographic Details
Main Authors: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher Disease
Beta glucocerebrosidase
Dried blood spot
Online Access:http://link.springer.com/article/10.1186/s13023-018-0782-x

Internet

http://link.springer.com/article/10.1186/s13023-018-0782-x

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