The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01800738
Reference17 articles.
1. Archer, I. M., Harper, P. S. and Wusteman, F. S. An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome.Clin. Chim. Acta. 112 (1981) 107–112
2. Bach, G., Eisenberg, F., Cantz, M. and Neufeld, E. F. The defect in the Hunter syndrome: Deficiency of sulphodiduronate sulphatase.Proc. Natl. Acad. Sci. USA 70 (1973) 2134–2138
3. Bitter, T. and Muir, H. A modified uronic acid carbazole reaction.Anal Biochem. 4 (1962) 330–334
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. Butterworth, J. and Broadhead, D. M. Comparison of the substrate 4-methyl-umbelliferyl-α-L-iduronide with phenyl-α-L-iduronide for the diagnosis of Hurler's disease in cultured cells.J. Inher. Metab. Dis. 2 (1979) 71–74
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1. The Enzymatic Degradation of Heparan Sulfate;Protein & Peptide Letters;2017-10-24
2. Hunter Syndrome: Cloning of the Gene, Mutations and Carrier Detection;Developmental Medicine & Child Neurology;2008-11-12
3. Genetics of Hunter Syndrome: carrier detection, new mutations, segregation and linkage analysis;Annals of Human Genetics;1986-10
4. Disorders of Mucopolysaccharide Metabolism;Genetic Disorders and the Fetus;1986
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