TY  - JOUR 
AU  - López Valverde, Laura
AU  - Vázquez Mosquera, María Eugenia
AU  - Colón Mejeras, Cristobal
AU  - Álvarez González, José Victor
AU  - Martín López-Pardo, Beatriz María
AU  - Lis López, Lluis
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  - 2025
SN  - 0969-9961
UR  - http://hdl.handle.net/20.500.11940/22101
AB  - [EN] Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A. This defect leads to the progressive accumulation of glycosphingolipids, resulting in kidney, heart, and nervous system...
LA  - eng
KW  - Synapses
KW  - Spain
KW  - Blood
KW  - Metabolic Diseases
KW  - Gene Expression
KW  - Enzyme Replacement Therapy
KW  - Fabry Disease
KW  - Internal Medicine
KW  - Cross-Sectional Studies
KW  - Sequence Analysis, RNA
TI  - Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing
DO  - 10.1016/j.nbd.2025.106908
T2  - Neurobiology of Disease
M2  - 106908
KW  - CHUS
KW  - IDIS
KW  - IISGS
KW  - CHUVI
VL  - 209
ER  -