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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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| Pubblicato in: | J Med Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
1978
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013734/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/216805/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.5.370 |
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