Prevalence and management of Gaucher disease
نویسندگان
چکیده
Correspondence: Gregory A Grabowski Cincinnati Children’s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA Tel +1 513 636 7290 Fax +1 513 636 2261 email [email protected] Abstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid β-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.
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Report of Four Children with Gaucher Disease and Review of Literature
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