Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study

Aim: The aim of this study was to investigate the clinical utility of panel-based next-generation sequencing (NGS) in the diagnostic approach of glycogen storage disease (GSD). Methods: We performed a retrospective review of the 32 cases with suspected GSDs between April 2013 and November 2019 throu...

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Detalles Bibliográficos
Autores principales: Ying, Shen, Zhihua, Zhang, Yucan, Zheng, Yu, Jin, Qian, Lin, Bixia, Zheng, Weixia, Cheng, Zhifeng, Liu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744419/
https://www.ncbi.nlm.nih.gov/pubmed/33344388
http://dx.doi.org/10.3389/fped.2020.600446

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744419/
https://www.ncbi.nlm.nih.gov/pubmed/33344388
http://dx.doi.org/10.3389/fped.2020.600446

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