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Gaucher's disease

Gaucher's disease (GD) is the most common lysosomal storage disease (LSD). It is an autosomal recessive disease, which causes abnormal accumulation of glucose cerebroside in reticuloendothelial cells. Dr. Phillipe Gaucher, a French Peter doctor, first reported in 1882. 50 years later, Aghion reported that Gaucher's disease was caused by the accumulation of glucocerebroside (G.C.) in mononuclear macrophages of liver, spleen, bone and central nervous system. Brady et al. Discovered in 1964 that the storage of glucocerebroside was caused by β- Glucosidase glucocerebroglycidase (GBA) deficiency provides a theoretical basis for the diagnosis and treatment of Gaucher's disease.


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