Abstract
Several decades of investigation of Gaucher disease by conventional biochemical techniques has greatly increased our understanding of this disorder. Its cause is a deficiency of the lysosomal enzyme glucocerebrosidase leading to the accumulation of glucocerebroside in the tissues. However, our understanding of some aspects of Gaucher disease remains incomplete. For example, its presentation may vary from a neuronopathic disorder with a fatal outcome in the first year of life to a benign storage disorder first diagnosed in old age, and the causes of the marked differences in clinical severity have eluded us. Moreover, efforts to devise a treatment strategy have not been successful.
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© 1988 Plenum Press, New York
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Beutler, E. et al. (1988). The Molecular Biology of Gaucher Disease. In: Salvayre, R., Douste-Blazy, L., Gatt, S. (eds) Lipid Storage Disorders. NATO ASI Series, vol 150. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1029-7_2
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DOI: https://doi.org/10.1007/978-1-4613-1029-7_2
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