Susanne Walls
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View article: Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland Open
Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, m…
View article: Late-onset and classic phenotypes of Fabry disease in males with the <i>GLA</i>-Thr410Ala mutation
Late-onset and classic phenotypes of Fabry disease in males with the <i>GLA</i>-Thr410Ala mutation Open
Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/ GLA ) causing Fabry disease (FD). Methods and results In a woman in her 60s with hypertrophic…
View article: Cardiomyopathy and cardiovascular events by gender in a comprehensive Finnish patient population with Fabry disease
Cardiomyopathy and cardiovascular events by gender in a comprehensive Finnish patient population with Fabry disease Open
Background/Introduction Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α- galactosidase A gene (GLA) leading to lack of an active GLA enzyme and accumulation of glycosphingolipids in different organs, includi…
View article: Fabryn tauti ja sen hoito
Fabryn tauti ja sen hoito Open