Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

STUDY OBJECTIVES: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy, ataxia, dystonia, and dementia. Some cases fr...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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., Kondo, H.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7523321/
https://ncbi.nlm.nih.gov/pubmed/32993765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01531-4
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