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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...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1978
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC336290/ https://ncbi.nlm.nih.gov/pubmed/33384 |
| タグ: |
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