• 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 first in literature: anesthesia management in kidney transplant surgery of a patient with McArdle disease
• A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease
• A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
• 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
• 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 updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation
• Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease
• Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia
• Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study
• Body composition in patients with hepatic glycogen storage diseases
• Cardiac comorbidities in McArdle disease: case report and systematic review
• Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII
• 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
• Chemogenetic activation of hypoglossal motoneurons in a mouse model of Pompe disease
• Clinical and genetic spectrum of GSD type 6 in Korea
• Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
• Clinical characteristics of Danon disease
• 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
• CT findings of glycogen storage disease I complicated with pancreatitis: A case report
• Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review
• 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)
• Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients
• Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease
• 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
• Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease
• Elucidation of intermolecular interactions between chlorogenic acid and glucose-6-phosphate translocase: A step towards chemically induced glycogen storage disease type 1b model
• 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
• Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease
• Estimation of Health Utility Scores for Glycogen Storage Disease Type Ia
• Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease
• Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1
• Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
• From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease
• 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 characteristics of 12 chinese children with glycogen storage diseases
• Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
• Glycogen storage disease with massive left ventricular hypertrophy and increased native T1: a case report
• Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
• Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice
• Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease
• Late onset Pompe disease: an analysis of 19 patients from Mexico
• Late Onset Pompe's Disease: Clinical, Pathological &amp; Molecular Analysis of Two Adolescent Patients
• Late Onset Pompe's Disease: Clinical, Pathological &amp;amp; Molecular Analysis of Two Adolescent Patients
• Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease
• 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
• Mauriac Syndrome: A Rare Condition With Cushingoid Feature and Hepatomegaly in Poorly Controlled Diabetes Mellitus Type 1
• 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
• Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis
• Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders
• Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort
• Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease
• Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
• Muscle MRI in McArdle Disease: A European Multicenter Observational Study
• 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
• Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin
• Outcome of liver transplantation in hepatic glycogen storage disease: A systematic review and meta-analysis
• Paediatric hepatocellular adenomas: Lessons from a systematic review of relevant literature
• Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000-L Scale in Participants with Pompe Disease: A Phase 3/4 Open-Label Study
• Phase I study of liver depot gene therapy in late-onset Pompe disease
• Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease
• Phytochemicals and their Potential Mechanisms against Insulin Resistance
• Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
• 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-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands
• Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study
• Quality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom
• 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
• Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report
• Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses
• 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
• Screening for late-onset Pompe disease in Internal Medicine departments in Spain
• Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease
• Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice
• Survey on the management of Pompe disease in routine clinical practice in Spain
• The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease
• 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
• Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV
• 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