Results 81 to 90 of about 2,627 (188)

111. Miglustat in Niemann-Pick disease type C (NPC)

, 2008
111.
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core  

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

Journal of Lipid Research, 2013
Niemann-Pick type C (NPC)1 is a rare neurodegenerative disease for which treatment options are limited. A major barrier to development of effective treatments has been the lack of validated biomarkers to monitor disease progression or serve as outcome ...
Martin Fan, Rohini Sidhu, Hideji Fujiwara, Brett Tortelli, Jessie Zhang, Cristin Davidson, Steven U. Walkley, Jessica H. Bagel, Charles Vite, Nicole M. Yanjanin, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory   +12 more
doaj   +1 more source

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

BMC Medical Genetics, 2017
Background Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2.
Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos   +6 more
doaj   +1 more source

Substrate reduction therapy with miglustat for type 1 Gaucher disease : a retrospective analysis from a single institution

, 2012
INTRODUCTION:Gaucher disease (GD) is an infrequent progressive multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase.
Hast, Robert, Engvall, Martin, Machaczka, Maciej, Hägglund, Hans,, Lerner, Richard, Klimkowska, Monika, Dahlman, Ingrid   +6 more
core   +1 more source

A clinical case of adult onset Niemann–Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2016
The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin   +6 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Levels of GM2-isoforms and free cholesterol before and after Cyclo/ALLO/miglustat-treatment.

, 2013
(A) - lipid analysis showed a decrease of free cholesterol level after Cyclo/ALLO/miglustat-treatment, both in NPC1+/+ and NPC1−/− mice (statistically not significant). (B) - levels of both isoforms of GM2 revealed a statistically significant decrease in
Arndt Rolfs (140849), Fabian Maass (338012), Marine Hovakimyan (288545), Oliver Stachs (224447), Maria Reichard (224453), Rudolf Guthoff (338015), Martin Witt (338013), Jan Lukas (338014), Andreas Wree (169221), Jana Petersen (338011)   +9 more
core   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement

, 2007
Enzyme replacement therapy (ERT) with imiglucerase reduces hepatosplenomegaly and improves hematologic parameters in Gaucher disease type 1 within 6-24 months.
Elstein, Deborah, Attias, Drorit, Aerts, Johannes F. M. G., Dweck, Altoon, Zevin, Shoshana, Altarescu, Gheona, Hadas-Halpern, Irith, van Weely, Sonja, Zimran, Ari   +8 more
core   +1 more source

Miglustat (Zavesca(R)) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

, 2009
PURPOSE: Miglustat (Zavesca(R)) is an orally-available substrate reduction therapy (SRT) for treatment of mild-to-moderate type 1 Gaucher disease (GD1) in adult patients unsuitable for enzyme replacement therapy (ERT). Miglustat has not been evaluated in
Hughes, Derralynn, Hollak, Carla E. M., Schwierin, Barbara, Bembi, Bruno, van Schaik, Ivo N.   +4 more
core   +1 more source