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

• Ngā kaituhi matua: Shen Ying (Author), Zhang Zhihua (Author), Zheng Yucan (Author), Jin Yu (Author), Lin Qian (Author), Zheng Bixia (Author), Cheng Weixia (Author), Liu Zhifeng (Author)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...