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

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....

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Detalles Bibliográficos
Autores principales: Lei, Ke, Zhao, Yanxia, Sun, Lirong, Liang, Hui, Luo, Ronghua, Sun, Xiaojing, Tao, Yanling, Chen, Lijun, Zhang, Lingling, Li, Aimin, Li, Fu, Ding, Hongfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889577/
https://www.ncbi.nlm.nih.gov/pubmed/29625627
http://dx.doi.org/10.1186/s13023-018-0782-x

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