Fabry disease is an X-linked inherited metabolic disorder characterized by the deficiency of lysosomal α-galactosidase A enzyme. This leads to the accumulation, into lysosomes through the body, of glycosphingolipids, mainly Gb3. Skin involvement and progressive multi-organ failure are usually observed. Endothelium is the preferential target of the Gb3 storage that determines endothelial dysfunction and vasculopathy leading to the clinical manifestations of the disease. The serum levels of Vascular Endothelial Growth Factor-A (VEGF-A), a specific endothelial cell mitogen, were analyzed in Fabry patients to explore a possible association to the clinical manifestations with vascular involvement.

Zampetti, A., Gnarra, M., Borsini, W., Giurdanella, F., Antuzzi, D., Piras, A., Smaldone, C., Pieroni, M., Cadeddu, C., De Waure, C., Feliciani, C., Vascular Endothelial Growth Factor (VEGF-a) in Fabry disease: Association with cutaneous and systemic manifestations with vascular involvement, <<CYTOKINE>>, 2013; 61 (3): 933-939. [doi:10.1016/j.cyto.2012.12.011] [http://hdl.handle.net/10807/42939]

Vascular Endothelial Growth Factor (VEGF-a) in Fabry disease: Association with cutaneous and systemic manifestations with vascular involvement

Zampetti, Anna;Cadeddu, Chiara;De Waure, Chiara;Feliciani, Claudio
2013

Abstract

Fabry disease is an X-linked inherited metabolic disorder characterized by the deficiency of lysosomal α-galactosidase A enzyme. This leads to the accumulation, into lysosomes through the body, of glycosphingolipids, mainly Gb3. Skin involvement and progressive multi-organ failure are usually observed. Endothelium is the preferential target of the Gb3 storage that determines endothelial dysfunction and vasculopathy leading to the clinical manifestations of the disease. The serum levels of Vascular Endothelial Growth Factor-A (VEGF-A), a specific endothelial cell mitogen, were analyzed in Fabry patients to explore a possible association to the clinical manifestations with vascular involvement.
2013
Inglese
Zampetti, A., Gnarra, M., Borsini, W., Giurdanella, F., Antuzzi, D., Piras, A., Smaldone, C., Pieroni, M., Cadeddu, C., De Waure, C., Feliciani, C., Vascular Endothelial Growth Factor (VEGF-a) in Fabry disease: Association with cutaneous and systemic manifestations with vascular involvement, <<CYTOKINE>>, 2013; 61 (3): 933-939. [doi:10.1016/j.cyto.2012.12.011] [http://hdl.handle.net/10807/42939]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/42939
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