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Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B Patients
Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in α-acetylglucosaminidase activity (α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). A similar deficiency was found in frozen organs from two other patients. A partial...
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1972
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| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC426786/ https://ncbi.nlm.nih.gov/pubmed/4261742 |
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