Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

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

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.

Identification of miRNAs Associated with Infantile-Onset Pompe Disease.

Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report.

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease mice.

Enzyme Replacement Therapy & Other Therapeutic Frontiers in Infantile Metabolic Disorders.

Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment.

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.

Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease.

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease.

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review.

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

Improving the treatment of Pompe disease with enzyme replacement therapy: current strategies and clinical evidence.

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.

Health-Related Quality of Life and Fatigue in Children with Pompe Disease.

Is Brazil following global trends in high-cost treatments? The case of Pompe Disease.

Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis.

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.

Predicting the phenotype of Pompe Disease from features of GAA variants.

Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease.

Quantitative Systems Pharmacology-Based Digital Twins Approach Supplements Clinical Trial Data for Enzyme Replacement Therapies in Pompe Disease.

A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.

Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.

Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning.

Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model.

Global birth prevalence of Pompe disease: A systematic review and meta-analysis.

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.

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

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset.

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.

Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation.

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis.

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

Evaluating avalglucosidase alfa for the management of late-onset Pompe disease.

Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease.

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Enzyme replacement therapy for late-onset Pompe disease.

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.

A Comprehensive Update on Late-Onset Pompe Disease.

Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice.

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.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa-/- mice.

Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.

Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.

Transcriptomic characterization of clinical skeletal muscle biopsy from late-onset Pompe patients.

Model-Informed Approach Supporting Approval of Nexviazyme (Avalglucosidase Alfa-ngpt) in Pediatric Patients with Late-Onset Pompe Disease.

Infantile-onset Pompe disease in seven Mexican children.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management.

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.

[Pompe Disease: Extraordinary Measures].

Diffusion tensor imaging of the brain in Pompe disease.

Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.

Retrospective analysis of prenatal ultrasound of children with Pompe disease.

Infantile Pompe disease with intrauterine onset: a case report and literature review.

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.

Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

The earliest enzyme replacement for infantile-onset Pompe disease in Japan.

Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.

A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

Desmin Myopathy-A Masquerader of Infantile-Onset Pompe Disease.

Vibration assisted rehabilitation in patients with Pompe disease: A case series.

Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.

Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.

Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study.

L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.

Is the brain involved in patients with late-onset Pompe disease?

Current status of newborn screening for Pompe disease in Japan.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Airway abnormalities and pulmonary complications in long-term treated late-onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.

Complex Transposon Insertion as a Novel Cause of Pompe Disease.

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.

Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient.

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease.

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Phenotypic implications of pathogenic variant types in Pompe disease.

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.

Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.

[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].

Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.

Advances in diagnosis and management of Pompe disease.

Cardiovascular disease in non-classic Pompe disease: A systematic review.

Health and economic outcomes of newborn screening for infantile-onset Pompe disease.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Skeletal muscle magnetic resonance imaging in Pompe disease.

Newborn Screening for Pompe Disease.

[Pompe disease treated with enzyme replacement therapy in pregnancy].

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.

White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging.

Pompe disease: pathogenesis, molecular genetics and diagnosis.

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].

Novel approaches to quantify CNS involvement in children with Pompe disease.

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

Dilated Cerebral Arteriopathy in Classical Pompe Disease: A Novel Finding.

Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.

Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease.

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Infantile-onset pompe disease: a tale of two cases.

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Infantile-onset Pompe disease: Diagnosis and management.

Gene Therapy for Pompe Disease: The Time is now.

Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.

White matter lesions in treated late onset Pompe disease are not different to matched controls.

Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.

The impact of Pompe disease on smooth muscle: a review.

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).

Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease.

Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.

Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

microRNAs as biomarkers in Pompe disease.

Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response.

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Newborn screening for Pompe disease: impact on families.

Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

[A new phenotype of infantile-onset Pompe disease].

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

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

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

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

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Enzyme replacement therapy for infantile-onset Pompe disease.

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase.

Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy.