ArticleFrontiers in molecular biosciences2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Article in Frontiers in molecular biosciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.International journal of molecular sciences · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
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42 authors.
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Abstract
Introduction: Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene Methods: We performed molecular screening in a cohort of 15,068 participants with suspected PD of a wide range of age from several regions of Russia. Two screenings had been undertaken from 2014 to 2025, and 2021 to 2025, respectively: 13,128 patients were screened using "two-tier one-gene" algorithm (measurement of GAA activity in dried blood spots followed by Sanger sequencing of the GAA) and 1940 patients were screened using Next-Generation Sequencing (NGS)-based algorithm (NGS of the panel of genes linked to neuromuscular disorders, Results: 63 causative nucleotide variants in the Discussion: Overall, our study is the first large-scale country-wide selective screening for PD in Russia based on sequencing and GAA activity measurement and providing the most comprehensive overview of genetics of PD in this study population.
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