Ontology highlight
ABSTRACT:
SUBMITTER: Rombach SM
PROVIDER: S-EPMC3626869 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Orphanet journal of rare diseases 20130325
<h4>Background</h4>Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear.<h4>Methods</h4>Renal, cardiac, and cerebral outcomes were prospectively studied in males and females with Fabry disease treated with ERT. Additionally, the occurrence of ...[more]