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...

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Detalles Bibliográficos
Autores principales: Skorpen, Johannes, Helland, Ingrid B, Tennøe, Bjørn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514393/
https://www.ncbi.nlm.nih.gov/pubmed/23146215
http://dx.doi.org/10.1186/1752-1947-6-383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514393/
https://www.ncbi.nlm.nih.gov/pubmed/23146215
http://dx.doi.org/10.1186/1752-1947-6-383

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