{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T16:29:40Z","timestamp":1776443380228,"version":"3.51.2"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T00:00:00Z","timestamp":1578355200000},"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":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A total of 11\u2009948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso\u2010GL\u20103 (lyso\u2010Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso\u2010GL\u20103 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.<\/jats:p>","DOI":"10.1111\/cge.13694","type":"journal-article","created":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T09:38:06Z","timestamp":1576834686000},"page":"655-660","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Diagnostic strategy for females suspected of Fabry disease"],"prefix":"10.1111","volume":"97","author":[{"given":"Sukirthini","family":"Balendran","sequence":"first","affiliation":[{"name":"Department of Pathology The Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9574-6395","authenticated-orcid":false,"given":"Petra","family":"Oliva","sequence":"additional","affiliation":[{"name":"ARCHIMED Life Science GmbH  Vienna 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Metabolic Diagnostics Unit Hamburg University Medical Center  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Kasper","sequence":"additional","affiliation":[{"name":"ARCHIMED Life Science GmbH  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.retram.2016.09.001"},{"key":"e_1_2_8_3_1","first-page":"2741","volume-title":"The Metabolic and Molecular Basis of Inherited Diseases","author":"Desnick RJ","year":"1995"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.167.3922.1268"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/2141-9248.183935"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"issue":"6","key":"e_1_2_8_7_1","first-page":"1186","article-title":"Nature and frequency of mutations 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