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Erythrophagocytosis by cultured skin fibroblasts from patients with hereditary metabolic disorders

✍ Scribed by M. Elleder; E. Holečková; V. Mandys


Publisher
Springer
Year
1993
Tongue
English
Weight
586 KB
Volume
49
Category
Article
ISSN
1420-682X

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Sphingomyelinase activity in cultured skin fibroblasts from a fetus affected with infantile-type Niemann-Pick disease was 0.5% of control activity; the activities in cells from two patients with adult-type disease (Cases 2 and 3) were 5.0% and 59.0%. Sphingomyelinase activiy was separated into three