Results 51 to 60 of about 2,627 (188)
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. [PDF]
PLoS ONE, 2012 Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical ...
Stephanie M Cologna +11 more
doaj +1 more source
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
, 2014 Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease characterized by progressive neurological manifestations. Oral miglustat was first approved for the treatment of children and adults with NP-C in Europe in 2009. There are still
Chien, Y. H.;Peng, S. F.;Yang, C. C.;Lee, N. C.;Tsai, L. K.;Huang, A. C.;Su, S. C.;Tseng, C. C.;Hwu, W. L. +1 more
core +1 more source
Miglustat in Niemann-Pick disease type c (NPC)
, 2008 Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000) +4 more
core +1 more source
Journal of Internal Medicine, Volume 299, Issue 5, Page 604-614, May 2026.Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon +31 more
wiley +1 more source
The mind’s eye: A neuro-ophthalmological perspective on Niemann-Pick type C disease
African Vision and Eye Health, 2019 Niemann-Pick disease type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in the NPC1 and NPC2 genes with an estimated incidence of 1:120 000 live births. The clinical presentations vary across the ages.
Priyanka Beedasy +2 more
doaj +1 more source
, 2009 RATIONALE: N-butyldeoxynojyrimicin (NB-DNJ, miglustat, Zavesca) an approved drug for treating Gaucher disease, was reported to be able to correct the defective trafficking of the F508del-CFTR protein.
Bob Lubamba +13 more
core +1 more source
Treatment with Miglustat in Patients Suffering from NPC [PDF]
, 2015 How to Cite This Article: Saneifard H. Treatment with Miglustat in patients suffering from NPC. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 13. Pls see Pdf.
SANEIFARD, Hedyeh
core +1 more source
Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease
Neural Plasticity, 2016 Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
G. D’Arcangelo +9 more
doaj +1 more source
A case of Niemann – Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2013 The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Study objectives Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids.
A. Imanishi +13 more
doaj +1 more source