Migalastat (Galafold®): per al tractament a llarg termini d’adults i adolescents de 16 anys i majors amb diagnòstic confirmat de malaltia de Fabry (deficiència d’α-galactosidasa A) i portadors de mutacions susceptibles a respondre al tractament
Abstract
Fabry's disease (MF) is a hereditary metabolic disorder, linked to the X chromosome, characterized by mutations to the GLA gene encoding the lysosomal-galactosidase A (α-gal A) enzyme. In normal conditions, this enzyme participates in the metabolism of glucoesfingolipids (mainly, globotriaosilceramide [GL3] and globotriaosilesfingosin [smooth-Gb3]), but with a deficit or absence of enzymatic activity they accumulate progressively in the lysosomes of the cells Vascular endothelials and smooth muscles.
Keywords
Migalastat; Fabry's disease; Teens
Bibliographic citation
Migalastat (Galafold®): per al tractament a llarg termini d’adults i adolescents de 16 anys i majors amb diagnòstic confirmat de malaltia de Fabry (deficiència d’α-galactosidasa A) i portadors de mutacions susceptibles a respondre al tractament. Barcelona: Servei Català de la Salut; 2017.
Audience
Professionals
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