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Research Article
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
  1. E L Schneider,
  2. P G Pentchev,
  3. S R Hibbert,
  4. A Sawitsky,
  5. R O Brady

    Abstract

    A new type (F) of Niemann-Pick disease characterised by childhood onset of splenomegaly, lack of neurological involvement, and diminished sphingomyelinase activity is described. The clinical presentation and heat-labile sphingomyelinase activity of this type F Niemann-Pick disease distinguishes it from other types of Niemann-Pick disease.

    https://doi.org/10.1136/jmg.15.5.370

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