A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
Open Access
- 1 October 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (5) , 370-374
- https://doi.org/10.1136/jmg.15.5.370
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.Keywords
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