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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. Affecte...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2015
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