
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
Keywords: FD, Fabry disease; α-GAL A, α-galactosidase A; GB3, globotriaosylceramide; Lyso-GB3, globotriaosylsphingosine; GLA, GLA gene; ND, not determined; DGJ, 1-deoxygalactonojirimycin; ISE, intron splicing enhancerFabry disease; Alpha-galactosidase A; c.846_847d