Author:
Kožich V.,Gibson K. M.,Zeman J.,Němeček J.,Hoffman G. F.,Pehal F.,Hyánek J.,Grosmanová A.,Verner P.
Subject
Genetics (clinical),Genetics
Reference4 articles.
1. de Klerk, J. B. C., Duran, M., Dorland, L., Brouwers, H. A. A., Bruinvis, L. and Ketting, D. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.J. Inher. Metab. Dis. 11 Suppl. 2 (1988) 233–236
2. Gibson, K. M., Hoffmann, G., Nyhan, W. L., Sweetman, L., Berger, R., le Coultre, R. and Smit, G. P. A. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.Eur. J. Pediatr. 148 (1988) 250–252
3. 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 non-sterol isoprene biosynthesis.N. Engl. J. Med. 314 (1986) 1610–1614
4. Tanaka, K., West-Dull, A., Hine, D. G., Lynn, T. B. and Lowe, T. Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure and its application to diagnosis of patients with organic acidurias.Clin. Chem. 26 (1980). 1847–1853
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献