Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate
Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a n...
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Veröffentlicht in: | Human genetics 1982-01, Vol.60 (2), p.167-171 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for 35S-sulphate incorporation, the cultures showed either twice the normal 35S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate. |
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ISSN: | 0340-6717 1432-1203 |
DOI: | 10.1007/BF00569706 |