The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

Abstract

Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians… (More)
DOI: 10.1007/8904_2017_84

Cite this paper

@article{Ivleva2018TheIO, title={The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.}, author={Alexandra Ivleva and Ekaterina Weith and Atul Mehta and Derralynn Hughes}, journal={JIMD reports}, year={2018} }