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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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Autor principal: O'brien, John S.
Format: Artigo
Idioma:Inglês
Publicat: 1972
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC426786/
https://ncbi.nlm.nih.gov/pubmed/4261742
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