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...

Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine 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 Tags: Research Source Type: research