{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T01:09:25Z","timestamp":1773018565572,"version":"3.50.1"},"reference-count":42,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007052","name":"Universit\u00e0 degli Studi di Verona","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007052","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J cachexia sarcopenia muscle"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Fabry disease (FD) is a rare, X\u2010linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross\u2010sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with sex, FD phenotype and treatment status.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Adults (aged \u2265\u200918\u2009years) with genetically confirmed FD were recruited. Demographic and laboratory data were collected. Physical fitness was assessed using cardiopulmonary exercise testing (VO\n                      <jats:sub>2<\/jats:sub>\n                      peak) and body composition parameters (fat\u2010free mass index [FFMI], fat mass index [FM] and phase angle [PA]) via bioelectrical impedance analysis. Physical function was evaluated with performance tests (6\u2010min walk test, handgrip strength test, 30\u2010s chair\u2010stand test, short physical performance battery), muscle strength tests (isometric and isokinetic knee strength) and self\u2010report fatigue questionnaires. Statistical analyses were stratified by sex, phenotype (classic vs. late\u2010onset\/Variants of Uncertain Significance [VUS]) and treatment status (enzyme replacement therapy [ERT]\/chaperone\u2010treated versus untreated).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Forty\u2010two FD patients (13 males; mean age 46\u2009\u00b1\u200913.9\u2009years) were enrolled. VO\n                      <jats:sub>2<\/jats:sub>\n                      \u2009&lt;\u200985% of predicted was more frequent in classic phenotype patients (53.8%) than in late\u2010onset\/VUS (11.5%;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.01). FFMI was lower in classic than late\u2010onset\/VUS (16.8\u2009\u00b1\u20091.0 vs. 18.6\u2009\u00b1\u20092.1\u2009kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      ;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.01). Treated males had lower PA than untreated males (4.8\u00b0\u2009\u00b1\u20091.0\u00b0 vs. 7.6\u00b0\u2009\u00b1\u20090.9\u00b0;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.04), and PA correlated with VO\n                      <jats:sub>2<\/jats:sub>\n                      peak (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.879;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.01). Among classic phenotype males, 74.3% scored below the 50th percentile in handgrip strength (26.1\u2009\u00b1\u20097.8\u2009kg), and 60.9% performed below predicted values in the 30\u2010s chair\u2010stand test (12.4\u2009\u00b1\u20094.3 repetitions). Self\u2010reported fatigue scores were higher in classic versus late\u2010onset\/VUS patients (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.05) and in treated patients compared to untreated patients (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Classic FD phenotype, particularly in males, was associated with reduced exercise capacity, muscle mass and physical performance. These findings support the integration of cardiopulmonary exercise testing, physical functional assessments and body composition analysis into the routine evaluation of FD patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcsm.70233","type":"journal-article","created":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T04:41:39Z","timestamp":1771476099000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross\u2010Sectional Multicentre Study"],"prefix":"10.1002","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5147-4367","authenticated-orcid":false,"given":"Nicola","family":"Vitturi","sequence":"first","affiliation":[{"name":"Department of Medicine\u2010DIMED, Division of Metabolic Diseases University Hospital of Padova  Padova 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