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Science 6 January 1967:
Vol. 155. no. 3758, pp. 86 - 88
DOI: 10.1126/science.155.3758.86
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Articles

Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood

John P. Kampine 1, Roscoe O. Bardy 1, Julian N. Kanfer 1, Minna Feld 2, and David Shapiro 3

1 Laboratory of Neurochemistry, National Institute of Neurological Diseases and Blindness, Bethesda, Maryland
2 Clinical Center, National Institutes of Health, Bethesda, Maryland 20014
3 Department of Organic Chemistry, Weizmann Institute of Science, Rehovoth, Israel

Enzymes which catalyze the hydrolysis of glucocerebroside and sphingomyelin have been demonstrated in preparations of washed human white blood cells. The level of activity of these respective enzymes is markedly decreased in leukocyte preparations obtained from patients with Gaucher's and Niemann-Pick diseases. Assay of these enzymes may be useful in the differential diagnosis of the sphingolipidoses.


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The Subacute Form of Niemann-Pick Disease.
J. A. Lowden, M. A. LaRamee, and P. Wentworth (1967)
Arch Neurol 17, 230-237
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