{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:51:43Z","timestamp":1792299103768,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T00:00:00Z","timestamp":1612915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of \u03b1\u2010galactosidase A activity (\u03b1\u2010Gal A), levels of lyso\u2010Gb3 and sequencing of the\n                    <jats:italic>GLA<\/jats:italic>\n                    gene in screening patients with suspected FD. Measurement of \u03b1\u2010Gal A activity in suspected FD patients in DBS was made followed by lyso\u2010Gb3 determination and\n                    <jats:italic>GLA<\/jats:italic>\n                    gene sequencing. Of the 2381 subjects analyzed, FD was confirmed in 24 patients. Thirteen different variants were considered like pathogenic, five of which had not been previously described (c.143A\u2009&gt;\u2009G; c.455A\u2009&gt;\u2009C; c.487G\u2009&gt;\u2009T; c.554delA; c.1045_1046insA). None of the patients with normal enzyme activity had FD confirmation. The DBS measurement of \u03b1\u2010Gal A was more sensitive than lyso\u2010Gb3 levels in both men and women. Definitive diagnosis of FD from a single DBS is possible, allowing samples to be easily sent from anywhere to the reference laboratory.\n                  <\/jats:p>","DOI":"10.1111\/cge.13936","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T09:32:52Z","timestamp":1612344772000},"page":"761-771","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity,\n                    <scp>lyso\u2010Gb3<\/scp>\n                    accumulation and\n                    <scp>\n                      <i>GLA<\/i>\n                    <\/scp>\n                    gene sequencing"],"prefix":"10.1111","volume":"99","author":[{"given":"Roc\u00edo","family":"Delarosa\u2010Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Molecular Diagnosis and Rare Diseases Laboratory Hospital Universitario Virgen del 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