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Transplantační medicína

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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).

How to diagnose Fabry

Think Fabry, think timely testing first.

How to diagnose Fabry

Think Fabry, think timely testing first.

How to diagnose Fabry

Think Fabry, think timely testing first.

How to diagnose Fabry

Think Fabry, think timely testing first.

How to diagnose Fabry

Think Fabry, think timely testing first.

Monitoring disease progression

Think Fabry, think regular profile-based assessments.

Monitoring disease progression

Think Fabry, think regular profile-based assessments.

Monitoring disease progression

Think Fabry, think regular profile-based assessments.

Monitoring disease progression

Think Fabry, think regular profile-based assessments.

Monitoring disease progression

Think Fabry, think regular profile-based assessments.

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