Review paper
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
Abstract
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system,...
Paper Details
Title
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
Published Date
Apr 13, 2021
Journal
Volume
10
Issue
8
Pages
1664 - 1664
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