Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants
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DOI: 10.1111/cge.13093
Abstract: Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next‐generation sequencing (NGS). We… read more here.
Keywords: slc37a4; incidence gsd; disease; gsd gsd ... See more keywords