Homocystinuria: The effect of pyridoxine supplementation on cultured skin fibroblasts
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02263574
Reference17 articles.
1. Barber, G. W. and Spaeth, G. L. Pyridoxine therapy in homocystinuria.Lancet, 1 (1967) 337
2. Bittles, A. H. and Carson, N. A. J. Homocystinuria: studies on cystathionine β-synthase,S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.J. Inher. Metab. Dis. 4 (1981) 3–6
3. Cavill, I. A. J. and Jacobs, A. Erythrocyte transaminase activity in iron deficiency anaemia.Scand. J. Haematol. 4 (1967) 249–256
4. Finkelstein, J. D. Methionine metabolism in mammals: the biochemical basis for homocystinuria.Metabolism 23 (1974) 389–398
5. Fowler, B., Kraus, J., Packman, S. and Rosenberg, L. E. Homocystinuria: evidence for three distinct classes of cystathionine β-synthase mutants in cultured fibroblasts.J. Clin. Invest. 61 (1978) 645–653
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1. Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease;Atherosclerosis;1992-06
2. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts;Human Genetics;1985-02
3. Vitamin-Responsive Inborn Errors of Metabolism;Advances in Clinical Chemistry;1983
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