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

• मुख्य लेखकों: Shen Ying (लेखक), Zhang Zhihua (लेखक), Zheng Yucan (लेखक), Jin Yu (लेखक), Lin Qian (लेखक), Zheng Bixia (लेखक), Cheng Weixia (लेखक), Liu Zhifeng (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...