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. 1978 Oct;15(5):370–374. doi: 10.1136/jmg.15.5.370

A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

E L Schneider, P G Pentchev, S R Hibbert, A Sawitsky, R O Brady
PMCID: PMC1013734  PMID: 216805

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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