Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.

Autor: O'Brien JS, Miller AL, Loverde AW, Veath ML
Jazyk: angličtina
Zdroj: Science (New York, N.Y.) [Science] 1973 Aug 24; Vol. 181 (4101), pp. 753-5.
DOI: 10.1126/science.181.4101.753
Abstrakt: alpha-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.
Databáze: MEDLINE