Fabrys sjukdom
Artiklar
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 disease
The examination of α-Gal A enzymatic activity can be performed on a Dried Blood Spot (DBS) test. Determination of pronounced α-Gal A deficiency is the definitive method of diagnosis in men.
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A Heart for Fabry - Podcast
A podcast series designed for cardiologists and healthcare professionals, focusing on the critical role of cardiologists in diagnosing and managing Fabry disease.
Building Care webinar series
The Building Care webinar series is designed to deepen your understanding of the critical role a patient-centered, multidisciplinary approach plays in managing Fabry disease.
KardiologKvarten podcast
Lyssna på experter inom kardiologi som delar med sig av sina kunskaper i podden KardiologKvarten
Diagnostic methodology and therapeutic benefits in Fabry Cardiomyopathy with Ales Linhart, Prof. of Medicine
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