miglustat

Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is char...

متن کامل

Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series

Journal: :Journal of Medical Case Reports 2015

متن کامل

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

Journal: :Orphanet Journal of Rare Diseases 2020

متن کامل

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

Journal: :International Journal of Molecular Sciences 2020

متن کامل

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

Journal: :Lipids in Health and Disease 2019

متن کامل

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید