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Article

Therapeutic advances in Fabry disease: The future awaits.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Nov 2020

Kant Sam, Atta Mohamed G

Abstract excerpt

Fabry disease (FD) is an X-linked disorder caused by mutations in GLA gene responsible for coding of the lysosomal enzyme alpha-galactosidase A(α-GAL). The resultant accumulation of globotriaosylceramide (Gb-3) leads to multisystemic disease including progressive chronic kidney disease, hypertrophic cardiomyopathy, stroke, angiokeratomas and corneal whorls. Current treatments include enzyme replacement therapy...

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Identifiers

PMID: 33152937
DOI: 10.1016/j.biopha.2020.110779

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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