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A rare disease a day: Gaucher Disease
Continuing the rare disease a day theme started yesterday with Hunter Syndrome, today the focus is on Gaucher disease (also called Gaucher’s disease). This is the most common autosomal recessive lysosomal storage disease. It is caused by mutations in the beta-glucocerebrosidase gene GBA1 and results in the build up of glucosylceramide in in the spleen, …
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