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

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 throug...

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Bibliographic Details
Main Authors: Shen Ying, Zhang Zhihua, Zheng Yucan, Jin Yu, Lin Qian, Zheng Bixia, Cheng Weixia, Liu Zhifeng
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Pediatrics
Subjects:
glycogen storage disease
next-generating sequencing
panel
variants
uncooked cornstarch
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2020.600446/full

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https://www.frontiersin.org/articles/10.3389/fped.2020.600446/full

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