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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出版年:	Orphanet Journal of Rare Diseases
主要な著者:	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
フォーマット:	論文
言語:	英語
出版事項:	BMC 2023-07-01
主題:	Niemann-Pick disease type C Paediatric Early infantile Miglustat Efficacy Survival
オンライン･アクセス:	https://doi.org/10.1186/s13023-023-02804-4