[Molecular pathology and clinical manifestations of Fabry disease].


Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme. The enzymatic defect results in the progressive accumulation of glycosphingolipids in endothelial cells, smooth muscle cells, leucocytes and fibroblasts leading to organ damage in the skin, eye… (More)


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@article{Rkczi2007MolecularPA, title={[Molecular pathology and clinical manifestations of Fabry disease].}, author={{\'E}va R{\'a}k{\'o}czi and S{\'a}ndor G{\"o}r{\"o}gh and J{\'a}nos Grubits and Melinda Erdős and Ferenc Garzuly and Katalin Hahn and Krisztina Bencsik and L{\'a}szl{\'o} V{\'e}csei and Csilla Trinn and Eva Krist{\'o}f and G{\'a}bor Mogyor{\'o}sy and Be{\'a}ta B. T{\'o}th and L{\'a}szl{\'o} Mar{\'o}di}, journal={Orvosi hetilap}, year={2007}, volume={148 23}, pages={1087-94} }