Neurological manifestations in Fabry's disease


Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme α-galactosidase A. Symptoms arise because of accumulation of globotriaosylceramide in multiple organs, resulting in severely reduced quality of life and premature death. Neurological symptoms, such as burning sensations (occasionally… (More)
DOI: 10.1038/ncpneuro0407


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