• 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 case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data
• 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
• A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa
• Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia
• Altered Splicing of <em>LAMP2</em> in a Multigenerational Family from Latvia Affected by Danon Disease
• Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease
• An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion
• An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle
• An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation
• Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease
• Case report: The success of empagliflozin therapy for glycogen storage disease type 1b
• Changes in forced vital capacity over 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry
• Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study
• Clinical features of pediatric Danon disease and the importance of early diagnosis
• Clinical manifestations and MRI features of Danon disease: a case series
• Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
• CRISPR/Cas9-based double strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type Ia
• CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia
• Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
• Danon Disease: Entire <em>LAMP2</em> Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature
• Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review
• Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
• DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
• Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II)
• Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease
• Editorial: Inborn errors of carbohydrate metabolism
• 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 enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
• Elucidation of intermolecular interactions between chlorogenic acid and glucose-6-phosphate translocase: A step towards chemically induced glycogen storage disease type 1b model
• Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
• Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial
• Endogenous glucose production in patients with glycogen storage disease type Ia estimated by oral d-[6,6-2H2]-glucose
• Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
• Enzyme replacement therapy for late-onset Pompe disease
• Essential dextrin structure as donor substrate for 4-alpha-glucanotransferase in glycogen debranching enzyme
• Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease
• Evaluating avalglucosidase alfa for the management of late-onset Pompe disease
• Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
• French recommendations for the management of glycogen storage disease type III
• GAA deficiency disrupts distal airway cells in Pompe disease
• Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
• Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2-VSIR Axis in Glycogen Storage Disease
• Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib
• Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib (6675 words)
• Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
• Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease
• Impaired Glucose Metabolism, Primary Cilium Defects, and Kidney Cystogenesis in Glycogen Storage Disease Type Ia
• Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases
• Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia
• Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model
• International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review
• Investigation on the treatment of empagliflozin in glycogen storage disease type b
• Investigation on the treatment of empagliflozin in glycogen storage disease type Ib
• Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report
• Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo
• Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease
• Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease
• Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
• Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance
• 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)
• Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series
• Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease
• McArdle's disease revealed by acute low back pain
• Medium-Chain Triglyceride Oil and Dietary Intervention Improved Body Composition and Metabolic Parameters in Children with Glycogen Storage Disease Type 1 in Jordan: A Clinical Trial
• Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
• Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease
• Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan
• Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease
• Neonatal Glycogen Storage Disease Type IA: A Rare Presentation
• Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease
• Paediatric hypertrophic cardiomyopathy secondary to Danon disease
• Phytochemicals and Their Potential Mechanisms Against Insulin Resistance
• 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
• Precocious puberty in patients with Pompe disease
• Rapid ultra-performance liquid chromatography-tandem mass spectrometry method for the simultaneous determination of three characteristic urinary saccharide metabolites in patients with glycogen storage diseases (type Ⅰb and Ⅱ)
• Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
• Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
• Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease
• Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report
• Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment
• Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
• Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease
• Screening for late-onset Pompe disease in Internal Medicine departments in Spain
• Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease
• Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report
• SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia
• 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
• Systematic literature review of the epidemiology of glycogen storage disease type 1a
• The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
• The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease
• The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI
• The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
• Two fluorimetric determinations of acid α-glucosidase activity in dried blood spot: Pompe disease in Iranian population
• Two fluorimetric determinations of acid α-glucosidase activity in dried-blood spot: Pompe disease in Iranian population
• Using an In Vivo Mouse Model to Determine the Exclusion Criteria of Preexisting Anti-AAV9 Neutralizing Antibody Titer of Pompe Disease Patients in Clinical Trials
• Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS()) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data
• Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS^®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data