Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.

Abstract

Fabry disease is a monogenic X-linked lysosomal storage disease caused by α-galactosidase A (αGalA) deficiency. Enzyme replacement therapy through administration of the missing αGalA is currently the only accepted therapeutic option. However, this treatment is connected to high costs, has ill-defined indication criteria and its efficacy is controversially… (More)
DOI: 10.1007/s00441-014-1922-9

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