Diagnosis of Hunter's syndrome carriers; Radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00569706.pdf
Reference35 articles.
1. Archer IM, Harper PS, Wusteman FS (1981) 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 112:107?112
2. Booth CW, Nadler HL (1974) Demonstration of the heterozygous state in Hunter's syndrome. Pediatrics 53:396?399
3. Cantz M, Kresse H, Barton RW, Neufeld EF (1972) Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol 28:884?897
4. Capobianchi MR, Romeo G (1976) Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome. Experientia 32:459?460
5. Danes BS, Bearn AG (1967) Hunter's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med 126:509?523
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1. Clinical and biochemical studies in mucopolysaccharidosis type II carriers;Journal of Inherited Metabolic Disease;2009-10-10
2. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.;Journal of Medical Genetics;1998-08-01
3. Hunter syndrome among Jews in Israel;Biomedicine & Pharmacotherapy;1994-01
4. Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.;Journal of Medical Genetics;1993-03-01
5. Biochemical diagnosis of Hunter syndrome on Epstein-Barr virus-transformed lymphoblastoid cell lines;Clinica Chimica Acta;1989-05
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