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Molecular Genetics and Metabolism, 2009 International audienceNiemann-Pick C (NPC) is a fatal progressive neurolipidosis. Miglustat, an inhibitor of glycosphingolipid synthesis, has been proposed to treat patients but questions remain regarding its efficacy.
Stephane Lehericy +2 more
exaly +2 more sources
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Miglustat as a therapeutic agent: prospects and caveats
Journal of Medical Genetics, 2012A viable treatment for lysosomal storage disease has been very difficult to attain. One option is pharmacological inhibition of synthetic pathways to reduce substrate accumulations. Miglustat N-butyldeoxynojirimycin (NBDNJ), an inhibitor of glucosylceramide synthase, has shown much promise in clinical trials for the treatment of Type I Gaucher disease.
Rosemarie E, Venier, Suleiman A, Igdoura
openaire +2 more sources
Miglustat therapy in juvenile Sandhoff disease
Journal of Inherited Metabolic Disease, 2009SummaryGM2‐gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme β‐hexosaminidase, resulting in the accumulation of ganglioside GM2 in various tissues, particularly the central nervous system.
C M E, Tallaksen, J E, Berg
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Goal-oriented therapy with miglustat in Gaucher disease
Current Medical Research and Opinion, 2008Gaucher disease (GD) is a highly heterogeneous disorder with multisystem involvement. Specific therapeutic goals for each manifestation of type 1 GD (GD1) were established in 2004 by an international panel of experts, to facilitate better management of GD1 patients.
Gregory M, Pastores +3 more
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Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
European Journal of Neurology, 2023Mahmoud Reza Ashrafi +2 more
exaly