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

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 f...

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Detalles Bibliográficos
Main Authors: Schneider, E L, Pentchev, P G, Hibbert, S R, Sawitsky, A, Brady, R O
Formato: Artigo
Idioma:Inglês
Publicado: 1978
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013734/
https://ncbi.nlm.nih.gov/pubmed/216805
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