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Variants were stratified by pathogenicity: Group 1 (pathogenic), Group 2 (non-pathogenic), and Group 3 (variants of unknown significance). Gb3 was visualized via Shiga toxin subunit B and quantified using CellProfiler (v4.1.3). Results were compared to healthy controls and patients with idiopathic small fiber neuropathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Dermal Gb3 load was elevated in both men and women with pathogenic\n                      <jats:italic>GLA<\/jats:italic>\n                      variants (Group 1,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), excluding those with the N215S variant. Increased Gb3 deposition was associated with pain in men (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05), but not with overall disease severity, treatment status, or cerebral white matter lesions. Diagnostic sensitivity and specificity to correctly determine FD were 67% and 95% in men, and 78% and 81% in women, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our findings demonstrate the feasibility of automated dermal Gb3 quantification and its capacity to detect cutaneous Gb3 accumulation in pathogenic\n                      <jats:italic>GLA<\/jats:italic>\n                      variant carriers. However, its diagnostic accuracy is moderate, and it does not reliably reflect systemic involvement in FD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04490-4","type":"journal-article","created":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T15:08:59Z","timestamp":1783436939000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease"],"prefix":"10.1186","volume":"21","author":[{"given":"Catharina","family":"Pfister","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Schindeh\u00fctte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Erbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Rost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aljosha Calvin","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Nordbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6973-6428","authenticated-orcid":false,"given":"Nurcan","family":"\u00dc\u00e7eyler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,7]]},"reference":[{"issue":"1","key":"4490_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.pharmthera.2009.01.003","volume":"122","author":"R Schiffmann","year":"2009","unstructured":"Schiffmann R. 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