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A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
E L EL Schneider, P G PG Pentchev, S R SR Hibbert, A A Sawitsky and R O RO Brady
J Med Genet 15(5):370-4 (1978)
PMID 216805
PMCID: 1013734
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.
DOI:
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DOI:
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