• 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 of glycogen storage disease type Ⅰa with gout as the first manifestation
• A case report of glycogen storage disease type 1a
• 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 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
• A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T
• A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a with G6PC c.648G>T
• Aberrant glucose metabolism underlies impaired macrophage differentiation in glycogen storage disease type Ib
• 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 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
• Anesthetic Management of a Patient With McArdle Disease: A Case Report and Review of the Literature
• Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia
• Carbohydrate Ingestion before Exercise for Individuals with McArdle Disease: Survey Evidence of Implementation and Perception in Real-World Settings
• Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII
• 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
• Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022
• Clinical and genetic spectrum of GSD type 6 in Korea
• Clinical features of pediatric Danon disease and the importance of early diagnosis
• Clinical Remission of Severe Crohn's Disease with Empagliflozin Monotherapy in a Pediatric Patient with Glycogen Storage Disease Type 1b
• 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
• 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
• 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
• Design and Pharmacological Chaperone Effects of <em>N</em>-(4'-Phenylbutyl)-DAB Derivatives Targeting the Lipophilic Pocket of Lysosomal Acid α-Glucosidase
• Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers
• 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
• Domino liver transplantation for maple syrup urine disease in children: A single-center case series
• 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
• Effect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy
• 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 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
• Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
• Glycogen Storage Disease
• Glycogen Storage Disease Type I
• Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report
• Glycogen storage disease with massive left ventricular hypertrophy and increased native T1: a case report
• 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)
• Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease
• 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
• Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease
• 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/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
• 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
• Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease
• Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
• Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
• 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
• 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
• Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
• Multiple disciplinary team for Pompe disease
• Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan
• Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease
• Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin
• 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
• 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-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
• 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
• 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
• SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia
• Short-term efficacy of empagliflozin in children with glycogen storage disease type Ⅰb
• Successful Anesthetic Management of an Adult Patient With Glycogen Storage Disease Type 1 During Liver Transplant: A Case Report
• 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
• Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
• 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
• Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition