Consensus clinical management guidelines for Niemann-Pick disease type C
Consensus clinical management guidelines for Niemann-Pick disease type C
About this item
Full title
Author / Creator
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 , on behalf of the International Niemann-Pick Disease Registry (INPDR) and International Niemann-Pick Disease Registry (INPDR)
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 the lysosomes. The clinical spectrum of NPC disease...
Alternative Titles
Full title
Consensus clinical management guidelines for Niemann-Pick disease type C
Authors, Artists and Contributors
Author / Creator
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
on behalf of the International Niemann-Pick Disease Registry (INPDR)
International Niemann-Pick Disease Registry (INPDR)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_133c728d8bde41bfb85dc58ba966d00c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_133c728d8bde41bfb85dc58ba966d00c
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0785-7
