Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Schneider, E L, Pentchev, P G, Hibbert, S R, Sawitsky, A, Brady, R O
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1978
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !