engleski

HOW TO TREAT A PATIENT WITH FABRY DISEASE? NEUROLOGICAL IMPLICATIONS

Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs and in epithelial and smooth muscle cells. Disease is characterized by the accumulation of the glycosphingolipid substrate, ceramide trihexoside and ceramide dihexoside in tissues. Progressive endothelial accumulation of glycosphingolipids accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system.

Fabry disease; neurologgical disorders; glycosphingolipids

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