Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
Skin fibroblasts from two patients who had symptoms of the Sanfilippo syndrome (mucopolysaccharidosis III) accumulated excessive amounts of heparan sulfate and were unable to release sulfate from N-acetylglucosamine-6-sulfate linkages in heparan sulfate-derived oligosaccharides. Keratan sulfate-deri...
Αποθηκεύτηκε σε:
| Εκδόθηκε σε: | Proc Natl Acad Sci U S A |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
National Academy of Sciences
1980
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC350382/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6450420/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.77.11.6822 |
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