• A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
• A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III
• A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum
• A surprising cause of proteinuria: Answers
• An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
• Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
• Diabetes in a Patient with Glycogen Storage Disease Type 1a
• Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
• Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center
• Exacerbation of Myopathy in Glycogen Debrancher Deficiency After Liver Transplantation: Case Report and Review of the Literature
• Glycogen Storage Disease
• Glycogen Storage Disease
• Glycogen storage disease type IIIa in pregnant women: A guide to management
• Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
• Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
• Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
• Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
• Infant glycogen storage disease type : a clinicopathological and genetic characteristics analysis of five cases
• Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases
• Inhibition of Wnt/beta-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia
• Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia
• Liver transplantation in glycogen storage disease: a single-center experience
• Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
• Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
• Neonatal Glycogen Storage Disease Type IA: A Rare Presentation
• Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder
• Savory Cracker Development for Blood Glucose Control and Management: Glycogen Storage Diseases
• Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
• Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X
• The Role of Physical Activity in Nonalcoholic and Metabolic Dysfunction Associated Fatty Liver Disease
• Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV
• Wernicke's Encephalopathy: A Precipitation of Glycogen Storage Disease