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

<p>Abstract</p> <p>Introduction</p> <p>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 c...

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Bibliographic Details
Main Authors: Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn
Format: Article
Language:English
Published: BMC 2012-11-01
Series:Journal of Medical Case Reports
Subjects:
Online Access:http://www.jmedicalcasereports.com/content/6/1/383