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RocqueRJBeaudoinCNdjaboueRCameronLPoirier-BergeronLPoulin-RheaultRAet al

doi: 10.4103/ijem.ijem_442_23

Fabry disease (OMIM ID 301500) Fabry disease is a progressive, X-linked inherited lysosomal storage disorder (LSD), characterized by deficient activity of lysosomal -galactosidase A (-Gal A), affecting glycosphingolipid metabolism [167170]