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Fabry disease with special reference to neurological manifestations

Fabry disease with special reference to neurological manifestations

European Review for Medical and Pharmacological Sciences 8(6): 275-281

Fabry's disease is an X-linked recessive Lysosomal Storage disease. The underlying metabolic defect is deficiency of lysosomal enzyme ceramidetrihexosidase. The disease has multisystem involvement. Neurological manifestations include small-fiber polyneuropathy manifested as painful distal extremities and anhidrosis. Fabry's disease also presents with both small-vessel and cortical multiple cerebral infarcts. Enzyme-replacement therapy has been found effective but expensive. Gene therapy could evolve as the ultimate therapeutic strategy.

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Accession: 049055851

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PMID: 15745387

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