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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Schneider, E L, Pentchev, P G, Hibbert, S R, Sawitsky, A, Brady, R O
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1978
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013734/
https://ncbi.nlm.nih.gov/pubmed/216805
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg