Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression.

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Torri, S;Salviati, A;Girelli, D;Siciliano, G;
2020-01-01

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression.
2020
Biomarkers
Fabry disease
Oxidative stress
lysoGb3
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1034974
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