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...

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Bibliografische gegevens

Gepubliceerd in:	Proc Natl Acad Sci U S A
Hoofdauteurs:	Kresse, H, Paschke, E, von Figura, K, Gilberg, W, Fuchs, W
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	National Academy of Sciences 1980
Onderwerpen:	Research Article
Online toegang:	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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