{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:14:48Z","timestamp":1762542888318,"version":"3.37.3"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T00:00:00Z","timestamp":1530662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008769","name":"Julius-Maximilians-Universit\u00e4t W\u00fcrzburg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The X\u2010linked Fabry disease (FD) is a multiorgan disorder due to alpha\u2010galactosidase A (\u03b1\u2010GAL) deficiency with consequent lysosomal accumulation of globotriaosylceramide (Gb3). We established the immunocytochemical detection of Gb3 in blood cells of FD patients as a new method for FD diagnostics, follow\u2010up and treatment control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We enrolled 67 FD patients (37 men, 30 women) and 52 healthy controls (26 men, 26 women). PBMC were isolated from whole venous blood and 3x10<jats:sup>5<\/jats:sup> cells were immunoreacted with antibodies against CD77 as a marker for Gb3. Using fluorescence microscopy, the mean percentage of Gb3 positive PBMC was determined by an investigator blinded to subject allocation. As a second method, we qualitatively assessed Gb3 positive cells in blood smears.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Gb3 deposits were unequivocally visible in PBMC and in blood smears. Men (<jats:italic>P<\/jats:italic> &lt; 0.001) and women (<jats:italic>P<\/jats:italic> &lt; 0.01) with classical FD had more Gb3\u2010positive PBMC than healthy controls, whose samples only occasionally showed positive cells. The number of Gb3 positive PBMC was negatively correlated with \u03b1\u2010GAL activity and positively correlated with plasma lyso\u2010Gb3 levels. Only the PBMC Gb3 load but not plasma lyso\u2010Gb3 reflected short\u2010 and long\u2010term effects of enzyme replacement therapy (<jats:italic>P<\/jats:italic> &lt; 0.01).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Gb3 can be visualized in PBMC and blood smears and can be used as a novel marker for diagnostics, follow\u2010up and treatment control in FD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/joim.12801","type":"journal-article","created":{"date-parts":[[2018,7,5]],"date-time":"2018-07-05T04:54:46Z","timestamp":1530766486000},"page":"427-438","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease"],"prefix":"10.1111","volume":"284","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6973-6428","authenticated-orcid":false,"given":"N.","family":"\u00dc\u00e7eyler","sequence":"first","affiliation":[{"name":"Department of Neurology University of W\u00fcrzburg W\u00fcrzburg Germany"},{"name":"Fabry Center for Interdisciplinary Therapy W\u00fcrzburg (FAZIT) University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"B\u00f6ttger","sequence":"additional","affiliation":[{"name":"Department of Neurology University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Henkel","sequence":"additional","affiliation":[{"name":"Department of Neurology University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Langjahr","sequence":"additional","affiliation":[{"name":"Department of 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