Changes in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease |
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| Authors: | J.C. Mazière C. Mazière J. Gardette L. Mora J. Polonovski |
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| Affiliation: | Laboratoire de Biochimie, Faculté de Médecine Saint-Antoine 27, rue Chaligny - 75571 Paris Cédex 12 France |
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| Abstract: | Cultured skin fibroblasts from 6 patients with Niemann-Pick disease type A were investigated for cholesterol metabolism. An increase in cholesterol synthesis from 14C-sodium acetate was observed in all cases. A decrease in 14C-oleic acid incorporation into cholesteryl esters was found in 5 of 6 cases. 125I-low density lipoprotein binding was significantly reduced in 3 of 4 investigated cases. |
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