Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis
Sign Up to like & getrecommendations! Published in 2020 at "ESC Heart Failure"
DOI: 10.1002/ehf2.12647
Abstract: Long‐term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. We compared long‐term cardiomyopathy and kidney… read more here.
Keywords: cardiomyopathy kidney; treatment; agalsidase beta; female fabry ... See more keywords
Female Fabry disease patients and X-chromosome inactivation.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2017.10.064
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has… read more here.
Keywords: disease patients; xci; fabry disease; disease ... See more keywords