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Cognitive impairment profile in adult patients with Niemann pick type C disease

OPEN Orphanet journal of rare diseases | 20 Oct 2017

C Heitz, S Epelbaum and Y Nadjar
Abstract
Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up.
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