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Article

Relationship between Capillaroscopic Architectural Patterns and Different Variant Subgroups in Fabry Disease: Analysis of Cases from a Multidisciplinary Center.

Genes - 21 Aug 2024

Faro Denise Cristiana, Di Pino Francesco Lorenzo, Rodolico Margherita Stefania, Costanzo Luca, Losi Valentina, Di Pino Luigi, Monte Ines Paola

Abstract excerpt

Anderson-Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often exhibit increased intima-media thickness (IMT) and reduced flow-mediated dilation (FMD), indicating non-atherosclerotic arterial thickening and the potential for...

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PMID: 39202460
DOI: 10.3390/genes15081101
PMCID: PMC11354189

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