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- W2017449718 abstract "Sphingomyelinase activities have been assayed either in the presence of detergents or by an activator method, in control subjects and patients with Niemann-Pick disease types A, B and C. The activity of this enzyme assayed with detergents compared with that for control subjects is markedly reduced in Niemann-Pick disease types A or B but not in type C. With the activator method, the enzymic activity is strongly reduced in patients with type C (30%) of the control data). This paper describes a reasonably satisfactory method for enzymic diagnosis of Niemann-Pick disease type C. Hypotheses for enzymic mutations in these three types of Niemann-Pick disease are put forward." @default.
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- W2017449718 title "Activateur des sphingohydrolases et nature du deficit en sphingomyelinase dans la maladie de niemann-pick type A, B et C" @default.
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- W2017449718 doi "https://doi.org/10.1016/0009-8981(77)90160-7" @default.
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