Family screening
Think Fabry, think screening at-risk family members.1
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Fabry
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When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.1,2
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Cardiac involvement in Fabry disease
Cardiovascular disease is the leading cause of death in fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3
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Renal involvement in Fabry disease
Think Fabry, think renal involvement that may present early in life and could go undetected.
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Monitoring disease progression
Think Fabry, think regular profile-based assessments.
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How to diagnose Fabry
Think Fabry, think timely testing first.
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Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
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Algemene informatie ziekte van Fabry
De ziekte van Fabry is een x-gebonden erfelijke stofwisselingsziekte die behoort tot de groep lysosomale stapelingsziekten.
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