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Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER
The Sanfilippo A syndrome is an autosomal recessive mucopolysaccharidosis characterized clinically by severe mental retardation and biochemically by storage in tissue and excretion in urine of excessive amounts of heparan sulfate. Since sulfamide groups are present in heparan sulfate, a sulfamidase...
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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: |
1974
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC301630/ https://ncbi.nlm.nih.gov/pubmed/4214836 |
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