Loading...

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

INTRODUCTION: Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on disease course and response to miglustat therapy is not currentl...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Skorpen, Johannes, Helland, Ingrid B, Tennøe, Bjørn
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3514393/
https://ncbi.nlm.nih.gov/pubmed/23146215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-6-383
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!