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Article

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International journal of molecular sciences - 29 Jan 2021

Sorriento Daniela, Iaccarino Guido

Abstract excerpt

Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alpha-galactosidase A (GAL) activity. At the clinical level, FD shows a high phenotype variability. Among them, cardiovascular dysfunction is often recurrent or, in some cases, is the sole symptom (cardiac variant) representing the leading cause of death in Fabry patients. The existing therapies, besides specific symptomatic treatments,...

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Identifiers

PMID: 33572752
DOI: 10.3390/ijms22031331
PMCID: PMC7865937

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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