Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood
- 6 January 1967
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 155 (3758) , 86-88
- https://doi.org/10.1126/science.155.3758.86
Abstract
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.This publication has 10 references indexed in Scilit:
- Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.Journal of Clinical Investigation, 1966
- The Metabolism of SphingomyelinPublished by Elsevier ,1966
- The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.Proceedings of the National Academy of Sciences, 1966
- METABOLISM OF SPHINGOMYELIN .I. PURIFICATION AND PROPERTIES OF A SPHINGOMYELIN-CLEAVING ENZYME FROM RAT LIVER TISSUE1966
- The Metabolism of GlucocerebrosidesPublished by Elsevier ,1965
- The Metabolism of GlucocerebrosidesJournal of Biological Chemistry, 1965
- METABOLISM OF GLUCOCEREBROSIDES .I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE1965
- METABOLISM OF GLUCOCEREBROSIDES .3. PURIFICATION AND PROPERTIES OF A GLUCOSYL- AND GALACTOSYLCERAMIDE-CLEAVING ENZYME FROM RAT INTESTINAL TISSUE1965
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965
- THE ISOLATION AND PROPERTIES OF THE SPECIFIC CYTOPLASMIC GRANULES OF RABBIT POLYMORPHONUCLEAR LEUCOCYTESThe Journal of Experimental Medicine, 1960