Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observat...
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat
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Author / Creator
Imanishi, A , Kawazoe, T , Hamada, Y , Kumagai, T , Tsutsui, K , Sakai, N , Eto, K , Noguchi, A , Shimizu, T , Takahashi, T , Han, G , Mishima, K , Kanbayashi, T and Kondo, H
Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Contents
Study objectives Ten patients with NPC were included in the study (5 males and 5 females). NPC diagnosis was biochemically confirmed in all 10 patients, from which 8 patients with NPC1 gene were identified. We compared CSF orexin levels among NPC, narcoleptic and idiopathic hypersomnia patients. Six NPC patients with cataplexy had low or intermedia...
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Full title
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6c6facbdfadb4e9fa114597681f22753
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6c6facbdfadb4e9fa114597681f22753
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01531-4
