The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

Abstract Background Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body....

Full description

Bibliographic Details
Main Authors: Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Stark, Maria Fuller, Wendy E. Hoy
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Nephrology
Subjects:
Fabry disease
Lysosomal storage disorder
Alpha-galactosidase
Genetic testing
Online Access:http://link.springer.com/article/10.1186/s12882-020-01717-9

Internet

http://link.springer.com/article/10.1186/s12882-020-01717-9

Similar Items