Fabry disease: The crucial role of the interhospital Heart Team in the diagnostic process of this rare disease
Agnieszka Zienciuk‐Krajka, Karolina Dorniak, Elżbieta Wabich, Monika Chmielecka et autres
Fabry disease (FD) is an X-linked lysosomal storage disease (MIM 301500) resulting from mutations in the α-galactosidase A (GLA) gene that cause deficiency of α-galactosidase A and progressive accumulation of glycosphingolipids (lyso-Gb3) in lysosomes of the heart, kidney, brain and skin.In classic …
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Kardiologia Polska