Disease: Glycogenosis type 7
- 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 new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy
- 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
- 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
- Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
- 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
- Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China
- 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
- Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry
- 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 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
- Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
- 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
- Hyperbaric oxygen treatment improves pancreatic beta-cell function and hepatic gluconeogenesis in STZ-induced type-2 diabetes mellitus model mice
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
- Late onset Pompe disease: an analysis of 19 patients from Mexico
- Late Onset Pompe's Disease: Clinical, Pathological & Molecular Analysis of Two Adolescent Patients
- Late Onset Pompe's Disease: Clinical, Pathological &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 effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease
- Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits
- 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
- Macroglossia: A potentially severe complication of late-onset Pompe disease
- 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
- 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
- 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
- Neonatal Glycogen Storage Disease Type IA: A Rare Presentation
- Outcome of liver transplantation in hepatic glycogen storage disease: A systematic review and meta-analysis
- Paternal eNOS deficiency in mice affects glucose homeostasis and liver glycogen in male offspring without inheritance of eNOS deficiency itself
- 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
- 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
- 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-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
- 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 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
- Screening for late-onset Pompe disease in Internal Medicine departments in Spain
- 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
- The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445-1510): does the child have 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
- 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<sup>®</sup>) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data
- Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction