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

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...

Source: Orphanet Journal of Rare Diseases - October 1, 2018 Category: Internal Medicine Authors: Yann Nadjar, Ana Lucia H ütter-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 Deram Tags: Research Source Type: research