Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset forms of NP-C, its efficacy in the early-infanti...

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Bibliographic Details
Main Authors: Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Niemann-Pick disease type C
Paediatric
Early infantile
Miglustat
Efficacy
Survival
Online Access:https://doi.org/10.1186/s13023-023-02804-4

Internet

https://doi.org/10.1186/s13023-023-02804-4

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