Article
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Cytokine - 1 Mar 2013
Zampetti Anna, Gnarra Maria, Borsini Walter, Giurdanella Federica, Antuzzi Daniela, Piras Andrea, Smaldone Costantino, Pieroni Maurizio, Cadeddu Chiara, de Waure Chiara, Feliciani Claudio
Abstract excerpt
INTRODUCTION: 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...
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