نتایج جستجو برای: miglustat

تعداد نتایج: 163  

2017
Anja Meyer Andreas Wree René Günther Carsten Holzmann Oliver Schmitt Arndt Rolfs Martin Witt

Niemann-Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive neurodegeneration. Since olfactory impairment is one of the earliest symptoms in many neurodegenerative disor...

Journal: :The Journal of infectious diseases 2007
Wouter Schul Wei Liu Hao-Ying Xu Marie Flamand Subhash G Vasudevan

Dengue fever is an emerging arboviral disease for which no vaccine or antiviral treatment exists and that causes thousands of fatalities each year. To develop an in vivo test system for antidengue drugs, AG129 mice, which are deficient for the interferon- alpha / beta and - gamma receptors, were injected with unadapted dengue virus, resulting in a dose-dependent transient viremia lasting severa...

Journal: :International Journal of Technology Assessment in Health Care 2022

Introduction Pompe disease (PD) is a rare, progressive neuromuscular that severely affects motor and respiratory functions. Late onset PD (LOPD) the most common phenotype. Current treatment involves enzyme replacement therapy (ERT) with alglucosidase alfa, which was first approved in 2006. In Europe, landscape changing as two new ERTs have been filed for regulatory approval: avalglucosidase alf...

Journal: :The Journal of clinical investigation 2014
Danielle te Vruchte Anneliese O Speak Kerri L Wallom Nada Al Eisa David A Smith Christian J Hendriksz Louise Simmons Robin H Lachmann Alison Cousins Ralf Hartung Eugen Mengel Heiko Runz Michael Beck Yasmina Amraoui Jackie Imrie Elizabeth Jacklin Kate Riddick Nicole M Yanjanin Christopher A Wassif Arndt Rolfs Florian Rimmele Naomi Wright Clare Taylor Uma Ramaswami Timothy M Cox Caroline Hastings Xuntian Jiang Rohini Sidhu Daniel S Ory Begona Arias Mylvaganam Jeyakumar Daniel J Sillence James E Wraith Forbes D Porter Mario Cortina-Borja Frances M Platt

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial challenges for clinical trial design. Here, we evaluated the use of a commercially available fluorescent probe, Lysotracker, that can be used to me...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید