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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Huvudupphov:	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
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	BMC 2023-07-01
Serie:	Orphanet Journal of Rare Diseases
Ämnen:	Niemann-Pick disease type C Paediatric Early infantile Miglustat Efficacy Survival
Länkar:	https://doi.org/10.1186/s13023-023-02804-4
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