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Showing 1 to 3 of 3 for “"Gaucher disease"”.
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Gaucher Disease Protects Against Tuberculosis
… in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. This and other lysosomal diseases occur with high frequency in Ashkenazi Jews. It has been proposed that the underlying mutations …
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No Difference In Health Related Quality of Life Between Therapeutic Options For Type 1 Gaucher Disease
<p>Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT). ERT reduces symptoms and increases healthrelated quality of life (HRQoL) in people with this condition. In 2014, oral substrate …
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Gaucer Disease in the Ashkenazi-Jewish Community of South Africa
Gaucher disease is a biochemical genetic disorder of the lipid storage group. It is characterised by an accumulation of a glycosphingolipid, glycosyl ceramide in the reticulo-endothelial system. The condition presents clinically with hepatosplenomegaly, haematologic and orthopaedic problems. …