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Gaucher Disease: Clinical, Biological and Therapeutic Aspects

20 Nov 2015

Abstract excerpt

We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and...

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PMID: 26588331
DOI: 10.1159/000440865

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