Comparison of the substrate 4-Methylumbelliferyl-α-l-iduronide with phenyl-α-l-iduronide for the diagnosis of Hurler's disease in cultured cells
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01801722
Reference9 articles.
1. Bach, G., Cantz, M., Hall, C. W. and Neufeld, E. F. Genetic errors of mucopolysaccharide degradation.Biochem. Soc. Trans. 1 (1973) 231–234
2. Butterworth, J. and Guy, G. J. α-l-Fucosidase of human skin fibroblasts and amniotic fluid cells in tissue culture.Clin. Genet. 12 (1977) 297–302
3. Butterworth, J. Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells.J. Inher. Metab. Dis. 1 (1978) 25–28
4. Butterworth, J. and Broadhead, D. M. Gaucher's disease: Factors affecting the 4-methylumbelliferyl-β-d-glucosidase activity of cultured skin fibroblasts.Clin. Genet. 14 (1978) 77–79
5. Guy, G. J. and Butterworth, J. Acid esterase activity in cultured skin fibroblasts and amniotic fluid cells using 4-methylumbelliferyl palmitate.Clin. Chim. Acta 84 (1978) 361–371
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1. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation;Clinical Genetics;2008-04-23
2. The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls;Journal of Inherited Metabolic Disease;1983-06
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