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Article

Chaperone Therapy in Fabry Disease.

International journal of molecular sciences - 8 Feb 2022

Weidemann Frank, Jovanovic Ana, Herrmann Ken, Vardarli Irfan

Abstract excerpt

Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy....

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Identifiers

PMID: 35163813
DOI: 10.3390/ijms23031887
PMCID: PMC8836454

Provenance

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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