Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment e...
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
About this item
Full title
Author / Creator
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 and Héron, Bénédicte
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 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 patients with adolescent/adult-onset NP-C studied to date.
Observ...
Alternative Titles
Full title
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_78eb2cb04dab43348fe7f8edcd6dfb27
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_78eb2cb04dab43348fe7f8edcd6dfb27
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0913-4
