TY - JOUR T1 - The pathophysiology of Fabry disease JO - Revista Clínica Española (English Edition) T2 - AU - Olivera-González,S. AU - Josa-Laorden,C. AU - Torralba-Cabeza,M.A. SN - 22548874 M3 - 10.1016/j.rceng.2017.09.001 DO - 10.1016/j.rceng.2017.09.001 UR - https://revclinesp.es/en-the-pathophysiology-fabry-disease-articulo-S225488741730098X AB - Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease. ER -