Characterisation of pathogenic pathways within the bone microenvironment of Gaucher disease which contribute to bone pathology and haematological malignancy
Introduction: Gaucher disease is a recessive disorder, mutation of the GBA1 gene leads to a reduction in β-glucocerebrosidase (GBA) activity, accumulation of glucosylceramide and abnormal levels of other sphingolipids. Features include hepatosplenomegaly, cytopenia and bone disease including osteope...
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University College London (University of London)
2017
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.746529 |