{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:19:19Z","timestamp":1789510759253,"version":"build-2803163510"},"reference-count":40,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T00:00:00Z","timestamp":1675641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi Genzyme"},{"name":"C. Auray-Blais"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired \u03b1-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb3) and related analogues. Lyso-Gb3 and related analogues are useful biomarkers for screening and should be routinely monitored for longitudinal patient evaluation. In recent years, a growing interest has emerged in the analysis of FD biomarkers in dried blood spots (DBSs), considering the several advantages compared to venipuncture as a technique for collecting whole-blood specimens. The focus of this study was to devise and validate a UHPLC-MS\/MS method for the analysis of lyso-Gb3 and related analogues in DBSs to facilitate sample collection and shipment to reference laboratories. The assay was devised in conventional DBS collection cards and in Capitainer\u00aeB blood collection devices using both capillary and venous blood specimens from 12 healthy controls and 20 patients affected with FD. The measured biomarker concentrations were similar in capillary and venous blood specimens. The hematocrit (Hct) did not affect the correlation between plasma and DBS measurements in our cohort (Hct range: 34.3\u201352.2%). This UHPLC-MS\/MS method using DBS would facilitate high-risk screening and the follow-up and monitoring of patients affected with FD.<\/jats:p>","DOI":"10.3390\/ijms24043223","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T01:56:48Z","timestamp":1675735008000},"page":"3223","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6289-1839","authenticated-orcid":false,"given":"Michel","family":"Boutin","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche\u2013CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche\u2013CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Beaudon","sequence":"additional","affiliation":[{"name":"Institut de pharmacologie, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges","family":"Kabala Ntumba","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche\u2013CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Bichet","sequence":"additional","affiliation":[{"name":"Research Center, H\u00f4pital du Sacr\u00e9-Coeur de Montreal, University of Montreal and Nephrology Service, Montreal, QC H4J 1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Maranda","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche\u2013CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Auray-Blais","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche\u2013CIUSSS de l\u2019Estrie-CHUS, Universit\u00e9 de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.7326\/0003-4819-146-6-200703200-00007","article-title":"Narrative review: Fabry disease","volume":"146","author":"Clarke","year":"2007","journal-title":"Ann. 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