An Enzymological Approach to the Lipidoses

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Abstract
The abnormal enzymology of Gaucher’s disease, metachromatic leukodystrophy, Fabry’s disease and Tay-Sachs disease is considered in light of recent experiments with highly purified enzymes from human sources. Structural, catalytic, and immunological properties of the enzymes involved are compared with their normal counterparts. The use of purified human enzymes in replacement therapy is discussed in Fabry’s disease where the results of initial trials with such therapy have been highly favorable.

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