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
41586034 (PubMed )
Supplement: JMD2-67-e70060-s001.xlsx › JIMD_03.04.2025_Supp_Table_1
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S3
Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Avanti M et al.
Molecular Genetics and Metabolism, 2023
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
37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Cohen JL et al.
The New England Journal of Medicine, 2022
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Bhatnagar C et al.
Neuromuscular Disorders : Nmd, 2022
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
Zhang X et al.
Annals of Human Genetics, 2020
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Desai AK et al.
Frontiers in Immunology, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 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
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Poelman E et al.
The Journal of Pediatrics, 2018
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.
Vill K et al.
Neuromuscular Disorders : Nmd, 2015
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Banugaria SG et al.
Plos One, 2013
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
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