{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T13:58:23Z","timestamp":1765807103540,"version":"build-2065373602"},"reference-count":50,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T00:00:00Z","timestamp":1366934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>Fabry condition, a lysosomal storage disease (LSD) is characterized by the absence or reduction of the \u03b1\u2010galactosidase A activity. Recently, a new diagnostic method for detection of \u03b1\u2010galactosidase activity from dried blood spots (DBS) using a chemical substrate and quantification of reaction mixture was developed. To improve this method in the terms of automation, reproducibility, sensitivity, and data reliability, we introduce here an innovative analytical approach based on chip\u2010nanoESI MS. The \u03b1\u2010galactosidase assay products derived from DBS of 11 healthy donors and 11 Fabry disease patients were analyzed by NanoMate robot coupled to a high\u2010capacity ion trap MS. Confirmation and structural analysis of the reaction products was achieved by CID and electron transfer dissociation (ETD) MS\/MS. The cleavage of a substrate GLA\u2010S generated a product, GLA\u2010P, which was quantified related to an internal standard GLA\u2010IS. Comparative patient versus control analysis indicated a 13\u2010fold reduction in GLA\u2010P\/GLA\u2010IS ratio in the case of the patients. Moreover, our method provided direct data on the enzyme, from which it was for the first time possible to discriminate between the patients lacking the enzyme and those presenting a less active one. GLA\u2010IS and GLA\u2010P were confirmed by CID\/ETD, which applied together, increased considerably the sequence coverage and provided complementary information for unambiguous product identification. The present chip\u2010nanoESI CID and ETD MS<jats:sup>n<\/jats:sup> strategy introduced here for first time in LSD diagnosis, provided a maximum confidence in assay product identification, a high sensitivity, speed of analysis, and result reproducibility.<\/jats:p>","DOI":"10.1002\/elps.201200665","type":"journal-article","created":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T22:29:36Z","timestamp":1363127376000},"page":"1572-1580","source":"Crossref","is-referenced-by-count":10,"title":["Testing the feasibility of fully automated chip\u2010based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease"],"prefix":"10.1002","volume":"34","author":[{"given":"Corina","family":"Flangea","sequence":"first","affiliation":[{"name":"Department of Chemical and Biological Sciences \u201cAurel Vlaicu\u201d University of Arad  Arad Romania"},{"name":"Department of Molecular Cell Biology Institute of Biochemistry of Romanian Academy  Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mosoarca","sequence":"additional","affiliation":[{"name":"Mass Spectrometry Laboratory National Institute for Research and Development in Electrochemistry and Condensed Matter  Timisoara Romania"},{"name":"Physics Department West University Timisoara  Timisoara Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Cozma","sequence":"additional","affiliation":[{"name":"Laboratory of Analytical Chemistry and Biopolymer Structure Analysis Department of Chemistry University of Konstanz  Konstanz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirela","family":"Galusca","sequence":"additional","affiliation":[{"name":"Department of Chemical and Biological Sciences \u201cAurel Vlaicu\u201d University of Arad  Arad Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Przybylski","sequence":"additional","affiliation":[{"name":"Laboratory of Analytical Chemistry and Biopolymer Structure Analysis Department of Chemistry University of Konstanz  Konstanz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina D.","family":"Zamfir","sequence":"additional","affiliation":[{"name":"Department of Chemical and Biological Sciences \u201cAurel Vlaicu\u201d University of Arad  Arad Romania"},{"name":"Mass Spectrometry Laboratory National Institute for Research and Development in Electrochemistry and Condensed Matter  Timisoara Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4419-7104-3_23"},{"key":"e_1_2_7_3_1","first-page":"527","volume":"69","author":"Manger B.","year":"2010","journal-title":"J. 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