Associated Papers
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1
Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.
Bevilacqua JA et al.
Frontiers in Genetics, 2024
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Jackson DG et al.
Molecular Genetics and Metabolism Reports, 2023
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
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
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.
Bergsma AJ et al.
Molecular Therapy. Nucleic Acids, 2016
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Bergsma AJ et al.
Human Mutation, 2015
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006
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