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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Abstract Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort o...

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Principais autores: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-10-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Niemann-pick disease type C
Adult-onset
Epidemiology
Miglustat
Efficacy
Safety
Acesso em linha:http://link.springer.com/article/10.1186/s13023-018-0913-4
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