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

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 of patien...

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Publicado en:Orphanet J Rare Dis
Autores principales: Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6167825/
https://ncbi.nlm.nih.gov/pubmed/30285904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0913-4
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