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Get Free AccessAbstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid ß-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
Greg Grabowski, Peter J Barnes, Burrow (2011). Prevalence and management of Gaucher disease. , DOI: https://doi.org/10.2147/phmt.s12499.
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Type
Article
Year
2011
Authors
3
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.2147/phmt.s12499
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