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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).
Asthma
Think Fabry, think timely testing first.
Lukt het jou om deze klinische casussen op tijd te diagnosticeren?
Download hier de verschillende switch materialen.
Discover Sanofi at EADV2025 featuring BioDay registry findings, expert panels, and networking opportunities for dermatology professionals in Paris.
Ontdek hier de meest recente inzichten rondom remissie.
