{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:58Z","timestamp":1790679238893,"version":"4.1.0"},"reference-count":77,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T00:00:00Z","timestamp":1624752000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for FD by \u03b1-galactosidase A activity and globotriaosylsphingosine (lyso-Gb3) assays in dried blood spot through a multiplexed MS\/MS assay. Furthermore, we report our experience with long-term follow-up of positive subjects. We screened more than 170,000 newborns and 22 males were confirmed to have a GLA gene variant, with an incidence of 1:7879 newborns. All patients were diagnosed with a variant previously associated with the later-onset phenotype of FD or carried an unclassified variant (four patients) or the likely benign p.Ala143Thr variant. All were asymptomatic at the last visit. Although lyso-Gb3 is not considered a reliable second tier test for newborn screening, it can simplify the screening algorithm when its levels are elevated at birth. After birth, plasma lyso-Gb3 is a useful marker for non-invasive monitoring of all positive patients. Our study is the largest reported to date in Europe, and presents data from long-term NBS for FD that reveals the current incidence of FD in northeastern Italy. Our follow-up data describe the early disease course and the trend of plasma lyso-Gb3 during early childhood.<\/jats:p>","DOI":"10.3390\/biom11070951","type":"journal-article","created":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T22:24:57Z","timestamp":1624832697000},"page":"951","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience"],"prefix":"10.3390","volume":"11","author":[{"given":"Vincenza","family":"Gragnaniello","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2224-4706","authenticated-orcid":false,"given":"Alessandro P","family":"Burlina","sequence":"additional","affiliation":[{"name":"Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3157-2979","authenticated-orcid":false,"given":"Giulia","family":"Polo","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Giuliani","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Duro","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation, National Research Council of Italy (IRIB CNR), 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Cazzorla","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Rubert","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0445-2974","authenticated-orcid":false,"given":"Evelina","family":"Maines","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, S. Chiara General Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8355-007X","authenticated-orcid":false,"given":"Dominique P","family":"Germain","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Versailles and APHP Paris Saclay University, 92380 Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto B","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphan J. 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