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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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Bibliografiske detaljer
Hovedforfatter: O'brien, John S.
Format: Artigo
Sprog:Inglês
Udgivet: 1972
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC426786/
https://ncbi.nlm.nih.gov/pubmed/4261742
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