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Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

✍ Scribed by Guy T.N. Besley

Book ID: 115907522
Publisher: Elsevier Science
Year: 1977
Tongue: English
Weight: 315 KB
Volume: 80
Category: Article
ISSN: 0014-5793
DOI: 10.1016/0014-5793(77)80409-2

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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