• 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
• A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management
• A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study
• Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III
• Clinical manifestations and MRI features of Danon disease: a case series
• Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
• Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center
• Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naive adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial
• Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
• Essential dextrin structure as donor substrate for 4-alpha-glucanotransferase in glycogen debranching enzyme
• Exacerbation of Myopathy in Glycogen Debrancher Deficiency After Liver Transplantation: Case Report and Review of the Literature
• French recommendations for the management of glycogen storage disease type III
• Gene therapy for glycogen storage diseases
• Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III
• Glycogen Storage Disease
• Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
• Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
• Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
• Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using ¹³C-glucose breath test
• In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI
• Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
• Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
• Novel <em>AGL</em> variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report
• Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
• Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells
• Population Pharmacokinetic Modeling and Determination of Individual Exposure to Avalglucosidase Alfa in Adolescent and Adult Patients With Late-Onset Pompe Disease: Analysis of Pooled Data From Phase I to III Clinical Trials
• Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report
• Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024
• Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver
• The new horizons for treatment of Late-Onset Pompe Disease (LOPD)
• Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life
• Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy