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BACKGROUND Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical characteristics of the Fabry patients in Romania. METHODS All known Fabry patients in Romania between 2015-2018 were prospectively included in the study. Data on personal history, family history and clinical parameters were collected and statistica
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