Associated Papers
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Monceau A et al.
Brain : a Journal of Neurology, 2024
Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset.
Volke L et al.
Stem Cell Research, 2024
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM et al.
Biomolecules, 2023
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT et al.
Metabolites, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Gal A et al.
Life (basel, Switzerland), 2021
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
Papadimas GK et al.
Neuromuscular Disorders : Nmd, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
Vaeggemose M et al.
Peerj, 2021
GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD.
Palahuta HV et al.
Wiadomosci Lekarskie (warsaw, Poland : 1960), 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
Goina E et al.
Human Mutation, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Screening for late-onset Pompe disease in Poland.
Jastrzębska A et al.
Acta Neurologica Scandinavica, 2019
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.
Alandy-Dy J et al.
Annals of Translational Medicine, 2019
Genetic basis of hypertrophic cardiomyopathy in children.
Rupp S et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019
Follow-up analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2018
Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
Hensel O et al.
Orphanet Journal of Rare Diseases, 2018
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Skeletal muscle metabolism during prolonged exercise in Pompe disease.
Preisler N et al.
Endocrine Connections, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease.
Sechi A et al.
Neuromuscular Disorders : Nmd, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Autophagy dysregulation in Danon disease.
Nascimbeni AC et al.
Cell Death & Disease, 2017
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
Mori M et al.
Jimd Reports, 2017
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.
Kazi ZB et al.
Jci Insight, 2016
Analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.
Różdżyńska-Świątkowska A et al.
Jimd Reports, 2016
Premature pubarche in children with Pompe disease.
Tan QK et al.
The Journal of Pediatrics, 2015
Morphology and function of cerebral arteries in adults with pompe disease.
Hensel O et al.
Jimd Reports, 2015
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Deroma L et al.
European Journal of Pediatrics, 2014
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Katona I et al.
Orphanet Journal of Rare Diseases, 2014
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Enzyme replacement therapy and antibodies in late-onset Pompe disease.
Schneider I et al.
Molecular Genetics and Metabolism Reports, 2014
Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences.
Hanisch F et al.
International Journal of Audiology, 2013
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
Preisler N et al.
Molecular Genetics and Metabolism, 2013
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
Banugaria SG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013