Anderson-Fabry disease (AFD) is a rare, X-linked, genetic disorder caused by mutations in the gene encoding the lysosomal enzyme ?galactosidase A and characterized by the progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3) in the vascular endothelium and in different tissues. Impairment in coronary vasodilator capacity has previously been demonstrated in patients with AFD, using positron emission tomography (PET) and dipyridamole
Endothelial-mediated coronary flow reserve in patients with Anderson-Fabry disease
Riccio Eleonora;
2014
Abstract
Anderson-Fabry disease (AFD) is a rare, X-linked, genetic disorder caused by mutations in the gene encoding the lysosomal enzyme ?galactosidase A and characterized by the progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3) in the vascular endothelium and in different tissues. Impairment in coronary vasodilator capacity has previously been demonstrated in patients with AFD, using positron emission tomography (PET) and dipyridamoleFile in questo prodotto:
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