{"doi":"10.3390/ijns5020024","title":"Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy","abstract":"<jats:p>The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders—mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases—using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.</jats:p>","journal":"International Journal of Neonatal Screening","year":2019,"id":14180,"datarank":1.9539896783791693,"base_score":4.143134726391533,"endowment":4.143134726391533,"self_citation_contribution":0.62147020895873,"citation_network_contribution":1.3325194694204394,"self_endowment_contribution":0.62147020895873,"citer_contribution":1.3325194694204394,"corpus_percentile":null,"corpus_rank":null,"citation_count":62,"citer_count":43,"citers_with_citation_signal":37,"citers_with_endowment":37,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":113178,"name":"Giulia Polo","orcid":"0000-0003-3157-2979","position":1,"is_corresponding":false},{"id":113179,"name":"Laura Rubert","orcid":null,"position":2,"is_corresponding":false},{"id":113180,"name":"Daniela Gueraldi","orcid":null,"position":3,"is_corresponding":false},{"id":113181,"name":"Chiara Cazzorla","orcid":null,"position":4,"is_corresponding":false},{"id":113182,"name":"Giovanni Duro","orcid":null,"position":5,"is_corresponding":false},{"id":113183,"name":"Leonardo Salviati","orcid":null,"position":6,"is_corresponding":false},{"id":113184,"name":"Alessandro P. Burlina","orcid":"0000-0002-2224-4706","position":7,"is_corresponding":false},{"id":113177,"name":"Alberto B. Burlina","orcid":"0000-0001-7724-137X","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.143134726391533,"endowment":4.143134726391533,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"33072983","pmcid":"PMC7510225","openalex_id":"https://openalex.org/W2952029860","authors":[],"funders":[],"total_grants":0,"fwci":4.4811,"citation_percentile":0.95274159,"influential_citations":2,"citation_trend":[{"year":2019,"count":1},{"year":2020,"count":14},{"year":2021,"count":5},{"year":2022,"count":14},{"year":2023,"count":9},{"year":2024,"count":8},{"year":2025,"count":7},{"year":2026,"count":3}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2409-515X/5/2/24/pdf?version=1561114954","host_type":"journal"},{"url":"https://www.mdpi.com/2409-515X/5/2/24/pdf?version=1561114954","host_type":"GOLD"},{"url":"https://www.mdpi.com/2409-515X/5/2/24/pdf?version=1561114954","host_type":"publisher"},{"url":"https://www.mdpi.com/2409-515X/5/2/24/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/ijns5020024","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/33072983","host_type":"repository"},{"url":"https://doaj.org/article/f8e8436e80d94bad98d696f444f3754c","host_type":"repository"},{"url":"http://doi.org/10.3390/ijns5020024","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7510225","host_type":"repository"},{"url":"http://hdl.handle.net/11577/3380692","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7510225","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7510225?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Lysosomal Storage Disorders Research","Trypanosoma species research and implications","Calcium signaling and nucleotide metabolism","Medicine"],"mesh_terms":[],"keywords":["Lysosomal storage disorders","Mucopolysaccharidosis","Newborn screening","Lysosomal storage disease","Dried blood","Medicine","Fabry disease","Hurler syndrome","Disease","Mucopolysaccharidosis I","Pediatrics","Incidence (geometry)","Hunter syndrome","Mucopolysaccharidosis type II","Dried blood spot","Enzyme replacement therapy","Pathology","Internal medicine","Biology","Chemistry","Biomarkers","Gaucher Disease","Gags","Pompe Disease","Mps I","Lysogb3","Second-tier Test","Lysogb1","Lysosomal Expanded Newborn Screening"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-01T05:39:53.342771Z","pmid":null,"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":[]}