Listar por tema "alpha galactosidase"
Mostrando ítems 1-2 de 2
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Fabry disease due to D313Y and novel GLA mutations
(2017)Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ... -
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
(2022)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 cohort ...