Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Abstract

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… (More)
DOI: 10.1038/gim.2015.217

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@article{Vega2016MolecularDO, title={Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing}, author={Ana Isabel Vega and Celia Medrano and Rosa Navarrete and Lourdes R Desviat and Bego{\~n}a Merinero and Pilar Rodr{\'i}guez-Pombo and Isidro Vitoria and Magdalena Ugarte and Celia P{\'e}rez-Cerd{\'a} and Bel{\'e}n P{\'e}rez}, journal={Genetics in Medicine}, year={2016}, volume={18}, pages={1037-1043} }