Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
Keywords: Epilepsy; Functional analysis; Glycogen storage disease type IV; Glycogenosis, glycogen branching enzyme 1; GSD; APBD; adult polyglucosan body disease; GBE; 1,4-alpha-glucan-branching enzyme; GSD IV; glycogen storage disease type IV; NP-GSD IV; non-progre