ArticleMolecular genetics and metabolism reports2022
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Cardiac magnetic resonance in Pompe disease: a systematic literature review.La Radiologia medica · 2026Pooled it
- Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.Frontiers in immunology · 2025Pooled it
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.Journal of translational medicine · 2026Article
- Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan.International journal of neonatal screening · 2026Article
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.Reports (MDPI) · 2026Article
- What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.Public health genomics · 2026Article
- Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.Orphanet journal of rare diseases · 2025Article
- An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.Italian journal of pediatrics · 2025Article
- Review
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.Frontiers in genetics · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.International journal of neonatal screening · 2024Article
- Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.Molecular diagnosis & therapy · 2024Review
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.Human mutation · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and better outcomes, especially with more severe forms. We present results from 7 years of NBS for PD and the management of infantile-onset (IOPD) and late-onset (LOPD) patients, during which we sought candidate predictive parameters of phenotype severity at baseline and during follow-up. We used a tandem mass spectrometry assay for α-glucosidase activity to screen 206,741 newborns and identified 39 positive neonates (0.019%). Eleven had two pathogenic variants of the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.