Abstract
Gaucher’s disease is a typical “inborn error of metabolism” classified as a sphingolipidosis and is generally characterized by autosomal recessive inheritance. Two distinct clinical types exist. The adult form is the type found most prevelant in the U.S. and is characterized by splenomegaly, the presence of typical “foam cells” in bone marrow aspirates and elevated serum phosphatase. This type is reasonably benign and affected patients usually have elective surgical removal of the spleen when its size becomes excessive. The infantile form is rarely seen in this country and is usually associated with mental retardation and is fatal in infancy (1,2).
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Kanfer, J.N., Stein, M., Spielvogel, C. (1972). Recent Observations on Gaucher’s Disease. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_16
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DOI: https://doi.org/10.1007/978-1-4757-6570-0_16
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