Study of prevalence and clinical characterization of Fabry disease in a central northern region of Chile (2013–2023)

Abstract excerpt

<title>Abstract</title> <p>Background Fabry disease (FD) is an X-linked genetic disorder, resulting in deficiency or absence of the enzyme alpha-galactosidase A, causing progressive multisystem involvement. Diagnosis combines clinical evaluation, biochemical testing and genetic analysis. Early initiation of enzyme replacement therapy (ERT) is crucial to prevent irreversible damage. In Chile, information on preval...

Topics

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• Age Factors
• alpha-Galactosidase
• Asian People
• China
• Consensus
• Diagnosis, Differential
• Fabry Disease
• Mutation

Identifiers and source

Literature Corpus work

7d0fa051-5f49-5496-99b6-6cf7c4161d39

DOI

10.21203/rs.3.rs-7330460/v1