• 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 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review
• A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
• A case report of Danon's disease with dilated phenotype
• A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
• A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease
• AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice
• 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 analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion
• An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV
• 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
• Assessment of auditory functions in patients with hepatic glycogen storage diseases
• Assessment of the function and morphology of the thyroid gland in paediatric patients treated with enzyme replacement therapy due to selected storage diseases - preliminary results of our own research and a review of the literature
• Atraumatic Acute Paraspinal Compartment Syndrome in a Patient With McArdle's 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
• BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
• Body composition in patients with hepatic glycogen storage diseases
• 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
• Cipaglucosidase Alfa: First Approval
• Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
• Clinical features of pediatric Danon disease and the importance of early diagnosis
• Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China
• Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
• 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
• Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease
• Degeneration of muscle spindles in a murine model of Pompe disease
• 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
• Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
• Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients
• Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease
• Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease
• Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
• 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
• 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
• Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease
• Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients
• Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
• Features of chinese patients with sitosterolemia
• Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease
• High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia
• High prevalence of paraspinal muscle involvement in adults with McArdle disease
• 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
• Intracranial vasculopathy: an important organ damage in young adult patients with late-onset 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
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
• Late onset Pompe disease: an analysis of 19 patients from Mexico
• Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
• Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits
• Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease
• 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
• McArdle disease in a patient with anorexia nervosa: a case report
• Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description
• Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
• Minimum Effective Dose to Achieve Biochemical Correction with Adeno-Associated Virus Vector-Mediated Gene Therapy in Mice with Pompe Disease
• 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 MRI in McArdle Disease: A European Multicenter Observational Study
• 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
• Novel Mutation in the Feline <em>GAA</em> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
• Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
• Paediatric hepatocellular adenomas: Lessons from a systematic review of relevant literature
• Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire 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
• Pompe disease misdiagnosed as polymyositis
• Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro 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 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)
• Rare disease therapeutics: The future of medical genetics in a changing landscape
• Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
• Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey
• Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses
• Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study
• 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
• Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
• SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency
• Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of 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
• Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre
• 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
• Whole-exome sequencing detects <em>PYGM</em> variants in two adults with McArdle disease
• Whole-exome sequencing detects PYGM variants in two adults with McArdle disease