Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat | Orphanet Journal of Rare Diseases | Full Text

Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat | Orphanet Journal of Rare Diseases | Full Text

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

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 s...

Authors:A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi and H. Kondo

Citation:Orphanet Journal of Rare Diseases 2020 15:269

Content type:Research

 

Published on: 29 September 2020

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