Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …

Abstract α-Galactosidase,(EC 3.2. 1.22) is an exoglycosidase that target
galactooligosaccharides such as raffinose, melibiose, stachyose and branched …

Background Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is
decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) …

Results from the 18-month randomized treatment period of the phase 3 ATTRACT study
demonstrated the efficacy and safety of oral migalastat compared with enzyme replacement …

Objective Current available evidence on long-term effectiveness of enzyme replacement
therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT …

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the
GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and …

The critical relevance of the lysosomal compartment for normal cellular function can be
proved by numbering the clinical phenotypes that arise in lysosomal storage disorders …

Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism,
characterized by the abnormal production of endogenous oxalate, a metabolic end-product …

Heterozygous loss-of-function mutations in progranulin (GRN) cause frontotemporal
dementia (FTD), a leading cause of early-onset dementia characterized clinically by …

Abstract Background The Canadian Fabry disease initiative (CFDI) tracks outcomes of
subjects with Fabry disease treated enzyme replacement therapy (ERT) given to subjects …