Consensus clinical management guidelines for Niemann-Pick disease type C

Consensus clinical management guidelines for Niemann-Pick disease type C

Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lip...

Full description

Bibliographic Details
Main Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Niemann-Pick Type C
NPC
Guidelines
Diagnosis
Management
Online Access:http://link.springer.com/article/10.1186/s13023-018-0785-7

Internet

http://link.springer.com/article/10.1186/s13023-018-0785-7

Similar Items