Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
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DOI: 10.1371/journal.pone.0277767
Abstract: The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry… read more here.
Keywords: disease; fabry; danish fabry; cohort ... See more keywords