Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis-Reference-Cited by-同舟云学术

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Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis

Published:1987-06 Issue:S2 Volume:10 Page:282-285
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gibson K. M.,Hoffmann G.,Nyhan W. L.,Sweetman L.,Brandt I. K.,Wappner R. S.,Bader P. I.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01811427

Reference6 articles.

1. 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

2. Boyum, A. Separation of leukocytes from blood and bone marrow.Scand. J. Clin. Lab. Invest. 21 Suppl. 97 (1968) 77–89

3. Harwood, H. J. Jr. and Rodwell, V. W. HMG-CoA reductase kinase: measurement of activity by methods that preclude interference by inhibitors of HMG-CoA reductase activity or by mevalonate kinase.J. Lipid Res. 23 (1982) 754–761

4. 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

5. Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with the Folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275

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5. Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency;Journal of Inherited Metabolic Disease;1995

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