Publication | Open Access

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations

GlycoproteomicsMedicineGeneticsInherited Metabolic DiseasePathogenesisDiabetesPathologyNovel Mutation P.r1147gMolecular FeaturesCeliac DiseaseIsolated Glucosidase DeficiencyGlycosylation