%0 Journal Article
%T Prevalence and management of Gaucher disease
%A Burrow TA
%A Barnes S
%A Grabowski GA
%J Pediatric Health, Medicine and Therapeutics
%D 2011
%I Dove Medical Press
%X T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid  -glucosidase) due to mutations in GBA1. Gaucher disease is the prototype for which disease-specific pharmacological therapy was successfully employed. The objective of this review is to provide a comprehensive review and critical examination of the prevalence, pathophysiology, natural history, and management of Gaucher disease.Keywords: lysosomal storage disease, pathophysiology, treatment, inborn errors of metabolism
%U http://www.dovepress.com/prevalence-and-management-of-gaucher-disease-a7693