Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Fabry disease (FD) is a rare X‐linked lysosomal storage disorder caused by α‐galactosidase A (α‐Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life‐threatening complications, including renal, cardiac, and cerebrovascular diseases. The pharmacological chaperone mi...

Ausführliche Beschreibung