RECENT OBSERVATIONS ON GAUCHER'S DISEASE
1976
Gaucher’s disease has been classically defined biochemically as having an accumulation of glucosylceramide in concert with a decreased associated hydrolytic enzyme activity (1) in tissues from affected individuals. This reduced enzymatic activity was originally demonstrated using glucosylceramide as substrates (2) however, p-nitrophenol (pNP) or 4 methylumbelliferyl (4MU) β-glucose (3) and glucosylsphinogosine (4) cleavage are also reduced in tissue samples from affected individuals.
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