{"doi":"10.1016/j.gimo.2025.103478","title":"Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease","abstract":"Purpose: To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD). Methods: A retrospective chart review of 17 IOPD (7 cross-reactive immunologic material [CRIM]-negative and 10 CRIM positive) who initiated ERT (alglucosidase alfa) ≤4 weeks of age and had ≥18 months follow-up was performed. Results: :5/16). Conclusion: These data highlight the benefits of early ERT initiation and ITI, along with high-dose ERT. Despite early treatment, patients with IOPD remain at risk of developing HSAT.","journal":"Genetics in Medicine Open","year":2025,"id":549186,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8894,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1443910,"name":"Eleanor Rodriguez-Rassi","orcid":null,"position":1,"is_corresponding":false},{"id":263444,"name":"Suhag Parikh","orcid":"0000-0002-6066-9852","position":2,"is_corresponding":false},{"id":469961,"name":"Rossana Sanchez Russo","orcid":"0000-0003-0423-2557","position":3,"is_corresponding":false},{"id":685728,"name":"David Kronn","orcid":null,"position":4,"is_corresponding":false},{"id":1443911,"name":"Jennifer Hamm","orcid":null,"position":5,"is_corresponding":false},{"id":475740,"name":"Irene J. Chang","orcid":"0000-0002-5842-5912","position":6,"is_corresponding":false},{"id":113210,"name":"Damara Ortiz","orcid":null,"position":7,"is_corresponding":false},{"id":1406182,"name":"Molly McPheron","orcid":"0000-0003-2133-1987","position":8,"is_corresponding":false},{"id":1443912,"name":"Holly Lydigsen","orcid":null,"position":9,"is_corresponding":false},{"id":626732,"name":"Stephanie DeArmey","orcid":null,"position":10,"is_corresponding":false},{"id":313809,"name":"Sarah P. Young","orcid":"0000-0002-7671-016X","position":11,"is_corresponding":false},{"id":388008,"name":"Priya S. Kishnani","orcid":"0000-0001-8251-909X","position":12,"is_corresponding":false},{"id":388006,"name":"Ankit K. Desai","orcid":"0000-0001-9884-6802","position":0,"is_corresponding":true}],"reference_count":32,"raw_metadata":null,"created_at":"2026-07-19T02:54:07.823422Z","pmid":"41536902","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}