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...
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 |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-04-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-018-0782-x |
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