Article
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2016
Vega Ana I, Medrano Celia, Navarrete Rosa, Desviat Lourdes R, Merinero Begoña, Rodríguez-Pombo Pilar, Vitoria Isidro, Ugarte Magdalena, Pérez-Cerdá Celia, Pérez Belen
Abstract excerpt
PURPOSE: Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. The nonspecific clinical presentation of GSD and the lack of specific biomarkers mean that Sanger sequencing is now widely relied on for making a diagnosis. However, this gene-by-gene sequencing technique is both laborious and...
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