Consensus clinical management guidelines for Niemann-Pick disease type C

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 lipids in th...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889539/
https://ncbi.nlm.nih.gov/pubmed/29625568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0785-7
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