Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.
Removal of N-sulfated glucosamine residues during degradation of heparan sulfate is accomplished by the sequential action of three enzymes. Action of sulfamidase results in the formation of alpha-glucosaminide residues. Removal of these groups requires conversion to alpha-N-acetylglucosaminide by th...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Proc Natl Acad Sci U S A |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
National Academy of Sciences
1978
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC336290/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/33384/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.75.10.5185 |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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