Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.

Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III.

A roadmap for a patient-centred approach to Pompe disease management.

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.

CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.

Austrian Pompe Outcome Consensus (APOC): a national Delphi study.

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.

Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Unfolding the genetic map of monogenic liver diseases in Egypt.

[A case report of glycogen storage disease type III combined with Guillain-Barré syndrome and literature review].

Long-Term Correction of Murine Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.

Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.

Glycogen Storage Disease Type III: The Critical Role of Cardiac MRI in Detecting Insidious Progression.

High-potency MyoAAV capsids enhanced skeletal muscle correction in a mouse model of GSD IIIa.

Avascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges.

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.

First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

[Modified Atkins diet in the treatment of a glycogen storage disease type Ⅲ patient].

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.

Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.

Progress and Criteria in Public Health Applications of Gene Therapy and Gene Editing: Beyond the White Paper.

Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool.

Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits.

Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).

Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.

Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case.

Galectin-3: a novel biomarker of glycogen storage disease type III.

Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa.

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

Liver transplantation in glycogen storage disease type III: A case-series.

Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

[Genetic and clinical characteristics of 26 cases with glycogen storage disease type Ⅲ].

Continuous glucose monitoring (CGM) for effective glucose control in a pregnant woman living with type IIIa glycogenosis. A case report.

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).

Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data.

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.

Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Exacerbation of Myopathy in Glycogen Debrancher Deficiency After Liver Transplantation: Case Report and Review of the Literature.

Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.

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.

Essential dextrin structure as donor substrate for 4-α-glucanotransferase in glycogen debranching enzyme.

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).

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.

Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.

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).

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.

In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI.

Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.

Clinical manifestations and MRI features of Danon disease: a case series.

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.

French recommendations for the management of glycogen storage disease type III.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Gene therapy for glycogen storage diseases.

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.

Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.

Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature.

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.

Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report.

Gene therapy and genome editing for type I glycogen storage diseases.

Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test.

The new horizons for treatment of Late-Onset Pompe Disease (LOPD).

Anesthetic management for dental surgery in a child with glycogen storage disease type IIIa: a case report.

Survey on the management of Pompe disease in routine clinical practice in Spain.

Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa.

Body composition in patients with hepatic glycogen storage diseases.

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.

Paternal eNOS deficiency in mice affects glucose homeostasis and liver glycogen in male offspring without inheritance of eNOS deficiency itself.

Liver transplantation in glycogen storage disease: a single-center experience.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.

Cognitive impairment in glycogen storage disease type III with severe heart failure: A case report.

Pharmacological Chaperone Therapy for Pompe Disease.

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.

Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates.

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

[Chinese experts consensus on diagnosis and treatment of glycogen storage disease type Ⅱ in children].

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Glycogen Debrancher Enzyme Deficiency Myopathy.

Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.

Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.

The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.

New approach to prepare fluorogenic branched dextrins for assaying glycogen debranching enzyme.

A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA.

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.

Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase.

"On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female.

Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.

Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Novel variants in Turkish patients with glycogen storage disease.

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

Mycotoxin Dietary Exposure Assessment through Fruit Juices Consumption in Children and Adult Population.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Expression of a Functional Recombinant Human Glycogen Debranching Enzyme (hGDE) in N. benthamiana Plants and in Hairy Root Cultures.

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.

Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

First report of glycogen storage disease type 111a in a Nigerian child.

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Missense mutations have unexpected consequences: The McArdle disease paradigm.

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

Non-osteogenic muscle hypertrophy in children with McArdle disease.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Pre- and peripartal management of a woman with McArdle disease: a case report.

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.

Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing.

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

[Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III].

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

[Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].