Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from glycosphingolipidosis patients. Substrate reduction therapy...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2004-08-01
Serija:	Neurobiology of Disease
Teme:	Niemann–Pick disease type C Substrate reduction therapy Miglustat Glycosphingolipidoses Lipid trafficking
Online dostop:	http://www.sciencedirect.com/science/article/pii/S0969996104001111
Oznake:	Označite Brez oznak, prvi označite!