Ontology highlight
ABSTRACT:
SUBMITTER: Arends M
PROVIDER: S-EPMC4501376 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Arends Maarten M Hollak Carla E M CE Biegstraaten Marieke M
Orphanet journal of rare diseases 20150616
Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose of this literature review is to analyse the currently available data concerning QoL measurement, specifically which questionnaires have been used to measure QoL, how patients with FD score compared to the general pop ...[more]