Results 161 to 170 of about 3,855 (201)
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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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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
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Gastrointestinal disturbances and their management in miglustat‐treated patients
Journal of Inherited Metabolic Disease, 2011AbstractMiglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is unsuitable, and for the treatment of progressive neurological manifestations in adult and paediatric patients with Niemann‐Pick disease type C (NP‐C).
Belmatoug N +6 more
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Miglustat: Substrate reduction therapy for glycosphingolipid lysosomal storage disorders
Drugs of Today, 2006Substrate reduction therapy offers a novel approach to the treatment of lysosomal storage disorders. By reducing the rate of macromolecule synthesis to a level where the residual degradative activity in the cell is sufficient to prevent substrate accumulation, it should be possible to reverse storage and storage-related pathologies.
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