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Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

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Journal of Inherited Metabolic Disease

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References

  • Berger, R., Smit, G. P. A., Schierbeek, H., Bijsterveld, K. and le Coultre, R. Mevalonic aciduria: an inborn error of cholesterol biosynthesis?Clin. Chim. Acta 152 (1985) 219–222

    PubMed  Google Scholar 

  • Bligh, E. G. and Dyer, W. J. A rapid method of total lipid extraction and purification.Can. J. Biochem. Physiol. 37 (1959) 911–917

    PubMed  Google Scholar 

  • Brown, M. S., Faust, J. R., Goldstein, J. L., Kanedo, I. and Endo, A. Induction of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts incubated with compactin (ML-236B), a competitive inhibitor of the reductase.J. Biol. Chem. 253 (1978) 1121–1128

    PubMed  Google Scholar 

  • Brown, M. S. and Goldstein, J. L. A receptor-mediated pathway for cholesterol homeostasis.Science (NY) 232 (1986) 34–47

    PubMed  Google Scholar 

  • Hoffmann, G., Gibson, K. M., Brandt, I. K., Bader, P. I., Wappner, R. S. and Sweetman, L. Mevalonic aciduria: An inborn error of cholesterol and nonsterol isoprene biosynthesis.N. Engl. J. Med. 314 (1986) 1610–1614

    Google Scholar 

  • Paton, B. C. and Poulos, A. Dolichol metabolism in cultured skin fibroblasts from patients with ‘neuronal’ ceroid lipofuscinosis (Batten's disease).J. Inher. Metab. Dis. 7 (1984) 112–116

    PubMed  Google Scholar 

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Hoffmann, G., Gibson, K.M., Nyhan, W.L. et al. Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. J Inherit Metab Dis 11 (Suppl 2), 229–232 (1988). https://doi.org/10.1007/BF01804243

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