TY  - JOUR 
AU  - López Valverde, Laura
AU  - Vázquez Mosquera, María Eugenia
AU  - Colón Mejeras, Cristobal
AU  - Bravo López, Susana Belén
AU  - Barbosa Gouveia, Sofía
AU  - Álvarez González, José Victor
AU  - Sánchez-Martínez, Rosario
AU  - López-Mendoza, Manuel
AU  - López-Rodríguez, Mónica
AU  - Villacorta-Argüelles, Eduardo
AU  - Goicoechea-Diezhandino, María A.
AU  - Guerrero-Márquez, Francisco J.
AU  - Ortolano, Saida
AU  - Leao-Teles, Elisa
AU  - Hermida Ameijeiras, Alvaro
AU  - Couce Pico, María Luz
PY  - 2024
SN  - 1931-5244
UR  - http://hdl.handle.net/20.500.11940/22102
AB  - [EN] Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient alpha-galactosidase A ( alpha-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well...
LA  - eng
KW  - Sex
KW  - Phenotype
KW  - Female
KW  - Translational Medical Research
KW  - Fabry Disease
TI  - Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
DO  - 10.1016/j.trsl.2024.02.006
T2  - Translational Research
M2  - 47
KW  - CHUS
KW  - IDIS
KW  - IISGS
VL  - 269
ER  -