A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
AUTOR(ES)
Schneider, E L
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013734Documentos Relacionados
- Endocardial fibroelastosis and Niemann-Pick disease.
- Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
- Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.
- Effect of dimethylsufoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts
- Cor pulmonale in an adult secondary to Niemann-Pick disease.
