{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:38Z","timestamp":1791993938335,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T00:00:00Z","timestamp":1559779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease (FD) is an X\u2010linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha\u2010galactosidase A (<jats:italic>GLA<\/jats:italic>). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10\u00a0years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.794","type":"journal-article","created":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T11:39:15Z","timestamp":1559821155000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Fabry pedigree analysis: A successful program for targeted genetic approach"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8138-3087","authenticated-orcid":false,"given":"Paula A.","family":"Rozenfeld","sequence":"first","affiliation":[{"name":"Departamento de Ciencias Biologicas, CONICET, Facultad de Ciencias Exactas IIFP, Universidad Nacional de La Plata La Plata Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca M.","family":"Masllorens","sequence":"additional","affiliation":[{"name":"Hospital Posadas Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Roa","sequence":"additional","affiliation":[{"name":"Azistia Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Azistia Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariela","family":"Bonnano","sequence":"additional","affiliation":[{"name":"Atencion de Pacientes Shire Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Yvorra","sequence":"additional","affiliation":[{"name":"Atencion de Pacientes Shire Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Ceci","sequence":"additional","affiliation":[{"name":"Departamento de Ciencias Biologicas, CONICET, Facultad de Ciencias Exactas IIFP, Universidad Nacional de La Plata La Plata Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.4236\/abc.2011.13008"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105080"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072116"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjmed.2017.09.010"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijcp.12914"},{"key":"e_1_2_7_11_1","first-page":"1","article-title":"The continuous challenge of diagnosing patients with Fabry disease in Argentina: Genotype, experiences, anecdotes, and new learnings","author":"Rozenfeld P. A.","year":"2015","journal-title":"Journal of Inborn Errors of Metabolism and Screening"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.794","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.794","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.794","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:02:15Z","timestamp":1694322135000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,6]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1002\/mgg3.794"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.794","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,6]]},"assertion":[{"value":"2019-03-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00794"}}