• 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 mini-GDE transgene corrects impairment in models of glycogen storage disease type III
• A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
• A patient with glycogen storage disease type IA combined with hepatic adenoma: A case report
• A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
• Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia
• Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease
• An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation
• Anesthetic Management of a Patient With McArdle Disease: A Case Report and Review of the Literature
• 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
• Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
• Cardiac comorbidities in McArdle disease: case report and systematic review
• Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
• 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
• Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior
• Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior
• Comments on: Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice
• Danon Disease: Entire <em>LAMP2</em> Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature
• Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature
• Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review
• DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
• Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS
• 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)
• Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration
• Domino liver transplantation for maple syrup urine disease in children: A single-center case series
• Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease
• 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
• Effects of enzyme replacement therapy on bone density in late onset Pompe disease
• 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
• Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose
• Enzyme replacement therapy for late-onset 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
• GAA deficiency disrupts distal airway cells in Pompe disease
• Gene therapy and genome editing for type I glycogen storage diseases
• Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
• Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
• Glycogen Storage Disease Type I
• Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
• In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI
• 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
• Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model
• Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease
• Intravital imaging of muscle damage and response to therapy in a model of Pompe disease
• 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
• Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
• Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center
• 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
• Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
• Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan
• Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
• Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin
• New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography
• Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy
• Paediatric hepatocellular adenomas: Lessons from a systematic review of relevant literature
• Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
• Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000-L Scale in Participants with Pompe Disease: A Phase 3/4 Open-Label Study
• 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
• Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease
• Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study
• Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder
• 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 b and )
• 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
• Response to Comments on "Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice"
• 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
• 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
• 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
• Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review
• Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life
• Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
• Two fluorimetric determinations of acid alpha-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
• 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
• Wild <em>Rosa roxburghii</em> Tratt Juices Grown at Different Altitudes Regulate Blood Glucose in Type 1 Diabetic Mice via the PI3K/Akt Pathway
• Wild Rosa roxburghii Tratt Juices Grown at Different Altitudes Regulate Blood Glucose in Type 1 Diabetic Mice via the PI3K/Akt Pathway