Sanfilippo Disease Type B: Enzyme Replacement and Metabolic Correction in Cultured Fibroblasts

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Science  24 Aug 1973:
Vol. 181, Issue 4101, pp. 753-755
DOI: 10.1126/science.181.4101.753


α-Acetylglucosaminidase, purified from human placent, corrected the defect in mucopolysaccharide degradation when added to culture fibroblasts from patients with Sanfilippo disease type B. A small cellular concentration of enzyme gave a large corrective effect. The half-life of disappearance of enzyme activity was 4 to 7 days.