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

• Asıl Yazarlar: Shen Ying (Yazar), Zhang Zhihua (Yazar), Zheng Yucan (Yazar), Jin Yu (Yazar), Lin Qian (Yazar), Zheng Bixia (Yazar), Cheng Weixia (Yazar), Liu Zhifeng (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...