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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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Kresse, H, Paschke, E, von Figura, K, Gilberg, W, Fuchs, W
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1980
Soggetti:	Research Article
Accesso 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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