{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17(1)"],"submitter":["Vitturi N"],"funding":["Università degli Studi di Verona"],"pubmed_abstract":["<h4>Background</h4>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross-sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with sex, FD phenotype and treatment status.<h4>Methods</h4>Adults (aged ≥ 18 years) with genetically confirmed FD were recruited. Demographic and laboratory data were collected. Physical fitness was assessed using cardiopulmonary exercise testing (VO<sub>2</sub> peak) and body composition parameters (fat-free mass index [FFMI], fat mass index [FM] and phase angle [PA]) via bioelectrical impedance analysis. Physical function was evaluated with perfor"],"journal":["Journal of cachexia, sarcopenia and muscle"],"pagination":["e70233"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12916441"],"repository":["biostudies-literature"],"pubmed_title":["Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study."],"pmcid":["PMC12916441"],"pubmed_authors":["Sponchiado S","Girelli D","Gasperetti A","Caccia F","Vitturi N","Ermolao A","Dalmonico A","Baschirotto C","Fadini GP","Gugelmo G","Marchi G","Cominacini M","Battaglia Y","Carraro G","Lenzini L","Momente C","Baciga F","Duregon F"],"additional_accession":[]},"is_claimable":false,"name":"Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.","description":"<h4>Background</h4>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross-sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with sex, FD phenotype and treatment status.<h4>Methods</h4>Adults (aged ≥ 18 years) with genetically confirmed FD were recruited. Demographic and laboratory data were collected. Physical fitness was assessed using cardiopulmonary exercise testing (VO<sub>2</sub> peak) and body composition parameters (fat-free mass index [FFMI], fat mass index [FM] and phase angle [PA]) via bioelectrical impedance analysis. Physical function was evaluated with perfor","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-07-16T07:54:37.724Z","creation":"2026-07-09T10:46:16.012Z"},"accession":"S-EPMC12916441","cross_references":{"pubmed":["41709110"],"doi":["10.1002/jcsm.70233"]}}