Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00292369.pdf
Reference16 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. Archer IM, Rees DW, Oladimeji A, Wusteman FS, Harper PS (1982) Detection of female carriers of Hunter's syndrome: Comparison of serum and hair-root analysis. J Inherited Metab Dis [Suppl] 5:15?16
3. Booth CW, Nadler HL (1974) Demonstration of the heterozygous state in Hunter's syndrome. Pediatrics 53:396?399
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
Cited by 6 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
1. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.;Journal of Medical Genetics;1998-08-01
2. Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15-year period (1977–1991);Journal of Inherited Metabolic Disease;1993-03
3. Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency;European Journal of Pediatrics;1986-12
4. Mucopolysaccharidoses;Advances in Pediatrics;1986
5. The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers;Human Genetics;1984-04
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