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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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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: Schneider, E L, Pentchev, P G, Hibbert, S R, Sawitsky, A, Brady, R O
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 1978
Konular:
Online Erişim: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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