Page last updated: 2024-08-23

miglustat and Gaucher Disease

miglustat has been researched along with Gaucher Disease in 82 studies

*Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. [MeSH]

Research

Studies (82)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	3 (3.66)	18.2507
2000's	45 (54.88)	29.6817
2010's	32 (39.02)	24.3611
2020's	2 (2.44)	2.80

Authors

Authors	Studies
Adachi, I; Asano, N; Compain, P; Godin, G; Ikeda, K; Kato, A; Martin, O; Yu, L	1
Butters, TD; Reinkensmeier, G; Wang, GN; Ye, XS; Zhang, LH; Zhang, LR; Zhang, SW; Zhou, J	1
Bujons, J; Casas, J; Delgado, A; Díaz, L; Llebaria, A	1
Allman, S; Butters, TD; Jensen, HH; Rasmussen, TS; Twigg, G	1
Fleet, GWJ; Jia, YM; Kato, A; Kise, M; Li, YX; Shimadate, Y; Wang, JZ; Yu, CY	1
Böger, B; Fachi, MM; Leonart, LP; Lombardi, NF; Pedroso, MLA; Pontarolo, R; Silva, MRD; Szpak, R	1
Amato, D; Patterson, MA	1
Belmatoug, N; Brand, M; Giorgino, R; Giraldo, P; Hollak, CE; Hughes, D; Kuter, DJ; Mehta, A; Muller, A; Schaaf, B; Zimran, A	1
Hughes, DA; Mehta, A; Thomas, AS	1
Amiri, M; Naim, HY	2
Alsop, J; Bembi, B; Brand, M; Hughes, D; Muller, A; van Schaik, IN	1
Bembi, B; Cox, TM; Deegan, P; Deroma, L; Hollak, C; Shemesh, E; Weinreb, NJ	1
Serratrice, C; Serratrice, J; Swiader, L	1
Alvarez-Fischer, D; Andreas, H; Hirsch, EC; Höglinger, GU; Höllerhage, M; Lu, L; Noelker, C; Oertel, WH; Roscher, R; Sturn, A; Vulinovic, F	1
Aerts, JM; Ferraz, MJ; Hollak, CE; Mirzaian, M; Overkleeft, HS; Smid, BE; Verhoek, M; Wisse, P	1
Alves, S; Coutinho, MF; Santos, JI	1
Di Francesco, E; Di Raimondo, F; Fiumara, A; Giuffrida, G; Lombardo, R; Parrinello, L	1
Acedo, A; Alfonso, P; Andrade-Campos, M; Atutxa, K; Barez, A; Blanes, M; de la Serna, J; Diaz-Morant, V; Fernández-Galán, MA; Franco, R; Gil-Cortes, C; Giner, V; Giraldo, P; Hernández-Martin, R; Ibañez, A; Irun, P; Latre, P; Loyola, I; Luño, E; Medrano-Engay, B; Pocovi, M; Puerta, J; Roig, I; Salamero, O; Villalón, L	1
Ceravolo, F; Concolino, D; Falvo, F; Grisolia, M; Moricca, MT; Sestito, S	1
Canda, E; Coker, M; Kagnici, M; Kose, M; Sozmen, EY; Ucar, SK	1
Ganz, ML; Hamed, A; Nalysnyk, L; Selzer, M; Stern, S; Ward, A; Weinreb, N	1
Baker, R; Berger, L; Holloway, B; Hughes, DA; Mehta, AB; Mikosch, P; Reed, M	1
Abel, L; Benko, W; Davies, EH; DeVile, C; Fitzgibbon, EJ; Harris, C; Ries, M; Schiffmann, R; Timmons, M; van Schaik, IN; Vellodi, A	1
Chérin, P; Giraldo, P; Mehta, A; Pastores, GM	1
Bembi, B; Hollak, CE; Hughes, D; Schwierin, B; van Schaik, IN	1
Alfonso, P; Alonso, D; Atutxa, K; Barez, A; Fernández-Galán, MA; Franco, R; Giraldo, P; Latre, P; Martin, A; Pocovi, M	1
Aerts, JM; Belmatoug, N; Bembi, B; Cohen, Y; Collin-Histed, T; Cox, TM; Deegan, P; di Rocco, M; Giraldo, P; Hollak, CE; Hrebicek, M; Manuel, J; Mengel, E; Michelakakis, H; Parini, R; Pocovi, M; Reinke, J; Sa Miranda, MC; Tylki-Szymanska, A; van Dussen, L; vom Dahl, S; Zimran, A	1
Alfonso, P; Gervas, J; Giraldo, P; Irun, P; Pocovi, M; Puzo, J	1
Marie, I	1
Amato, D; Piran, S	1
Lo, SM; McNamara, J; Mistry, PK; Seashore, MR	1
Hughes, DA; Pastores, GM	1
Belmatoug, N; Burlina, A; Giraldo, P; Hendriksz, CJ; Kuter, DJ; Mengel, E; Pastores, GM	1
Czartoryska, B; Groener, JE; Jurkiewicz, E; Kamiński, ML; Tylki-Szymańska, A; Ługowska, A	1
Camou, F; Viallard, JF	1
Abian, O; Alfonso, P; Giraldo, P; Pocovi, M; Sancho, J; Velazquez-Campoy, A	1
Giraldo, P	1
Dahlman, I; Engvall, M; Hägglund, H; Hast, R; Klimkowska, M; Lerner, R; Machaczka, M	1
Hughes, D	1
Igdoura, SA; Venier, RE	1
Amato, D; Cox, TM; Giorgino, R; Hollak, CE; Luzy, C; Silkey, M; Steiner, RD	1
Cooper, T	1
Moyses, C	1
Elstein, D; Zimran, A	1
Butters, TD; Dwek, RA; Platt, FM	1
Aerts, JM; Butters, TD; Cox, TM; Dwek, RA; Elstein, D; Hollak, C; Hrebicek, M; Lachmann, RH; Maas, M; Platt, FM; van Weely, S; Zimran, A	1
Antebi, V; Arnon, Y; Doniger, GM; Elstein, D; Guedalia, J; Simon, ES; Zimran, A	1
Barnett, NL; Kolodny, EH; Pastores, GM	1
Barranger, JA; Charrow, J; Grabowski, GA; Mankin, HJ; Mistry, P; Weinreb, NJ	1
Lachmann, RH	1
Acedo, A; Alfonso, P; Alonso, D; Barez, A; Corrales, A; Franco, R; Giraldo, P; Latre, P; Pocovi, M; Roldan, V; Serrano, S	1
Stirnemann, J	2
Germain, DP; Mistry, P	2
Brady, RO	1
Beutler, E	1
Baker, R; Ginsberg, L; Goodwin, S; Hughes, DA; Mehta, AB; Milligan, A; Richfield, L	1
Chung, S; Do, H; Kornfeld, S; Lee, WS; Pine, CW; Steet, R	1
Goker-Alpan, O; Sidransky, E	1
Alfonso, P; Capablo, JL; de Cabezón, AS; Franco, R; Giraldo, P; Pocovi, M	1
Hachulla, E; Javier, RM	2
Aerts, JF; Altarescu, G; Attias, D; Dweck, A; Elstein, D; Hadas-Halpern, I; van Weely, S; Zevin, S; Zimran, A	1
Aviezer, D; Brumshtein, B; Butters, TD; Futerman, AH; Greenblatt, HM; Shaaltiel, Y; Silman, I; Sussman, JL	1
Elstein, D; Hrebícek, M; Pastores, GM; Zimran, A	1
Jakóbkiewicz-Banecka, J; Wegrzyn, A; Wegrzyn, G	1
Froissart, R; Guffon, N; Maire, I	1
Belmatoug, N; de Villemeur, TB; Stirnemann, J	1
Bembi, B; Deegan, P	1
Mehta, A	1
Jeyakumar, M; Platt, FM	1
Chippington, S; McHugh, K; Vellodi, A	1
Butters, TD; Dwek, RA; Karlsson, GB; Neises, GR; Platt, FM	1
Butters, TD; Dwek, RA; Neises, GR; Platt, FM	1
Bieberich, E; Freischütz, B; Suzuki, M; Yu, RK	1
Aerts, J; Butters, T; Cox, T; Dwek, R; Elstein, D; Gow, I; Hollak, C; Hrebícek, M; Lachmann, R; Moyses, C; Platt, F; van Weely, S; Zimran, A	1
Kranda, M	1
Mistry, PK	1
Barranger, JA	1
Butters, TD; Dwek, RA; Platt, FM; Priestman, DA	1

Reviews

24 review(s) available for miglustat and Gaucher Disease

Article	Year
A Systematic Review and Meta-analyses of Longitudinal Studies on Drug Treatments for Gaucher Disease. The Annals of pharmacotherapy, 2023, Volume: 57, Issue:3 Topics: 1-Deoxynojirimycin; Blood Platelets; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Humans	2023
Gaucher disease: haematological presentations and complications. British journal of haematology, 2014, Volume: 165, Issue:4 Topics: 1-Deoxynojirimycin; Anemia; Combined Modality Therapy; Disease Management; Enzyme Replacement Therapy; Gaucher Disease; Genetic Predisposition to Disease; Glucosylceramidase; Glycosphingolipids; Hemorrhagic Disorders; Humans; Inflammation; Lewy Body Disease; Lysosomes; Macrophage Activation; Multiple Myeloma; Parkinson Disease; Splenectomy; Splenomegaly; Thrombocytopenia; Unfolded Protein Response	2014
Enzyme replacement and substrate reduction therapy for Gaucher disease. The Cochrane database of systematic reviews, 2015, Mar-27, Issue:3 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Hemoglobin A; Hepatomegaly; Humans; Platelet Count; Randomized Controlled Trials as Topic; Splenomegaly; Substrate Specificity	2015
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. International journal of molecular sciences, 2016, Jul-04, Volume: 17, Issue:7 Topics: 1-Deoxynojirimycin; Enzyme Replacement Therapy; Gaucher Disease; Genistein; Humans; Lysosomal Storage Diseases; Mucopolysaccharidoses; Niemann-Pick Disease, Type C	2016
Goal-oriented therapy with miglustat in Gaucher disease. Current medical research and opinion, 2009, Volume: 25, Issue:1 Topics: 1-Deoxynojirimycin; Adult; Aged; Bone and Bones; Female; Gaucher Disease; Hepatomegaly; Humans; Lung; Male; Middle Aged; Splenomegaly	2009
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:3 Topics: 1-Deoxynojirimycin; Adult; Bone and Bones; Bone Density; Bone Marrow; Enzyme Replacement Therapy; Gaucher Disease; Humans; Lumbar Vertebrae; Magnetic Resonance Imaging; Time Factors; Treatment Outcome	2010
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches. Wiener medizinische Wochenschrift (1946), 2010, Volume: 160, Issue:23-24 Topics: 1-Deoxynojirimycin; Animals; Autophagy; Calcium; Cell Membrane; Disease Models, Animal; DNA Mutational Analysis; Endoplasmic Reticulum; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Genetic Therapy; Glucosylceramidase; Glucosylceramides; Glycolipids; Homeostasis; Humans; Mice; Oxidative Stress; Proteostasis Deficiencies	2010
Gastrointestinal disturbances and their management in miglustat-treated patients. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:5 Topics: 1-Deoxynojirimycin; Adult; Child; Clinical Trials as Topic; Drug-Related Side Effects and Adverse Reactions; Enzyme Inhibitors; Gastrointestinal Diseases; Gaucher Disease; Humans; Models, Biological	2011
Miglustat as a therapeutic agent: prospects and caveats. Journal of medical genetics, 2012, Volume: 49, Issue:9 Topics: 1-Deoxynojirimycin; Animals; Clinical Trials as Topic; Disease Models, Animal; Gangliosides; Gaucher Disease; Humans	2012
Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003, May-29, Volume: 358, Issue:1433 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Humans; Substrate Specificity	2003
Gaucher disease and the clinical experience with substrate reduction therapy. Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003, May-29, Volume: 358, Issue:1433 Topics: 1-Deoxynojirimycin; Clinical Trials as Topic; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Humans; Substrate Specificity	2003
New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Advances in experimental medicine and biology, 2003, Volume: 535 Topics: 1-Deoxynojirimycin; Animals; Disease Models, Animal; Drug Therapy, Combination; Enzyme Inhibitors; Gaucher Disease; Glycosphingolipids; Humans; In Vitro Techniques; Lysosomal Storage Diseases; Mice	2003
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American journal of hematology, 2005, Volume: 80, Issue:3 Topics: 1-Deoxynojirimycin; Contraindications; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Humans; Practice Guidelines as Topic	2005
Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders. Drugs of today (Barcelona, Spain : 1998), 2006, Volume: 42, Issue:1 Topics: 1-Deoxynojirimycin; Animals; Clinical Trials as Topic; Drug Evaluation, Preclinical; Enzyme Inhibitors; Gaucher Disease; Glucosyltransferases; Glycosphingolipids; Humans; Lysosomal Storage Diseases	2006
Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation research, 2006,Summer, Volume: 9, Issue:2 Topics: 1-Deoxynojirimycin; Bone Marrow Transplantation; Enzyme Inhibitors; Fabry Disease; Gangliosidosis, GM1; Gaucher Disease; Genetic Therapy; Humans; Imino Sugars; Piperidines	2006
Gaucher disease: multiple lessons from a single gene disorder. Acta paediatrica (Oslo, Norway : 1992). Supplement, 2006, Volume: 95, Issue:451 Topics: 1-Deoxynojirimycin; Gaucher Disease; Globosides; Humans; Liver; Molecular Chaperones; Splenectomy	2006
[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment]. Presse medicale (Paris, France : 1983), 2007, Volume: 36, Issue:12 Pt 3 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Aged, 80 and over; Bone Density; Bone Diseases; Bone Diseases, Metabolic; Child; Child, Preschool; Clinical Trials as Topic; Diphosphonates; Enzyme Inhibitors; Fractures, Bone; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Humans; Joint Diseases; Kyphosis; Magnetic Resonance Imaging; Middle Aged; Osteoarthritis; Osteonecrosis; Osteoporosis; Radionuclide Imaging; Spinal Fractures; Tomography, X-Ray Computed	2007
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clinical therapeutics, 2007, Volume: 29, Issue:8 Topics: 1-Deoxynojirimycin; Adult; Bone Density; Bone Diseases, Metabolic; Enzyme Inhibitors; Female; Gaucher Disease; Glucosyltransferases; Humans; Male; Middle Aged; Multicenter Studies as Topic; Pain; Pain Measurement; Time Factors; Treatment Outcome	2007
Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. Journal of applied genetics, 2007, Volume: 48, Issue:4 Topics: 1-Deoxynojirimycin; Animals; Enzyme Inhibitors; Gaucher Disease; Genistein; Humans; Lysosomal Storage Diseases; Lysosomes; Mucopolysaccharidosis III; Niemann-Pick Diseases; Sandhoff Disease; Tay-Sachs Disease	2007
[Therapeutic objectives in Gaucher disease]. La Revue de medecine interne, 2007, Volume: 28 Suppl 2 Topics: 1-Deoxynojirimycin; Adult; Child; Clinical Trials as Topic; Enzyme Inhibitors; Evidence-Based Medicine; Female; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Humans; Male; Phenotype; Quality of Life; Recombinant Proteins; Time Factors; Treatment Outcome	2007
[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment]. La Revue de medecine interne, 2007, Volume: 28 Suppl 2 Topics: 1-Deoxynojirimycin; Adult; Bone Density; Bone Diseases; Diphosphonates; Enzyme Inhibitors; Gaucher Disease; Genotype; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Humans; Joint Diseases; Magnetic Resonance Imaging; Osteonecrosis; Quality of Life; Recombinant Proteins; Registries; Time Factors; Treatment Outcome	2007
[Current development and usefulness of biomarkers for Gaucher disease follow up]. La Revue de medecine interne, 2007, Volume: 28 Suppl 2 Topics: 1-Deoxynojirimycin; Adult; Biomarkers; Chemokines, CC; Disease Progression; Enzyme Inhibitors; Female; Follow-Up Studies; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Immunohistochemistry; Infant, Newborn; Peptidyl-Dipeptidase A; Pregnancy; Pregnancy Complications; Recombinant Proteins; Time Factors	2007
Gaucher disease: unmet treatment needs. Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:457 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Health Services Accessibility; Hematologic Neoplasms; Humans; Knee Joint; Magnetic Resonance Imaging; Recombinant Proteins	2008
Substrate reduction therapy. Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:457 Topics: 1-Deoxynojirimycin; Animals; Blood-Brain Barrier; Central Nervous System Diseases; Enzyme Inhibitors; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans; Lysosomal Storage Diseases; Niemann-Pick Disease, Type C; Treatment Outcome	2008

Trials

10 trial(s) available for miglustat and Gaucher Disease

Article	Year
Randomized, controlled trial of miglustat in Gaucher's disease type 3. Annals of neurology, 2008, Volume: 64, Issue:5 Topics: 1-Deoxynojirimycin; Adolescent; Child; Child, Preschool; Endpoint Determination; Enzyme Inhibitors; Female; Gaucher Disease; Glucosylceramidase; Hexosaminidases; Humans; Liver; Lung; Lung Diseases; Male; Ocular Motility Disorders; Saccades; Spleen; Treatment Outcome; Young Adult	2008
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica, 2009, Volume: 94, Issue:12 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Chemokines, CC; Child; Enzyme Inhibitors; Female; Gaucher Disease; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Liver; Male; Middle Aged; Organ Size; Prospective Studies; Quality of Life; Spleen; Surveys and Questionnaires; Time Factors; Treatment Outcome; Weight Loss; Young Adult	2009
Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy. Atherosclerosis, 2010, Volume: 209, Issue:2 Topics: 1-Deoxynojirimycin; Adult; Aged; Apolipoprotein A-I; Apolipoproteins B; C-Reactive Protein; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Coronary Disease; Female; Gaucher Disease; Humans; Lipoprotein(a); Male; Middle Aged; Risk; Triglycerides	2010
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:6 Topics: 1-Deoxynojirimycin; Administration, Oral; Electromyography; Enzyme Inhibitors; Gaucher Disease; Hemoglobins; Hexosaminidases; Humans; Liver; Magnetic Resonance Imaging; Neural Conduction; Platelet Count; Spleen; Tomography, X-Ray Computed	2004
Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction. Genetics in medicine : official journal of the American College of Medical Genetics, 2005, Volume: 7, Issue:2 Topics: 1-Deoxynojirimycin; Adult; Aged; Cognition Disorders; Enzyme Inhibitors; Female; Gaucher Disease; Humans; Intelligence Tests; Male; Middle Aged; Neuropsychological Tests; Observer Variation; Psychometrics; Reproducibility of Results; User-Computer Interface	2005
An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clinical therapeutics, 2005, Volume: 27, Issue:8 Topics: 1-Deoxynojirimycin; Adult; Blood; Body Weight; Drug Tolerance; Enzyme Inhibitors; Female; Gaucher Disease; Humans; Liver; Male; Middle Aged; Spleen; Treatment Outcome	2005
Short-term effect of miglustat in every day clinical use in treatment-naïve or previously treated patients with type 1 Gaucher's disease. Haematologica, 2006, Volume: 91, Issue:5 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; Aged; Bone Marrow; Chemokines, CC; Drug Administration Schedule; Female; Gaucher Disease; Genotype; Glucosylceramidase; Glucosylceramides; Glucosyltransferases; Hexosaminidases; Humans; Male; Middle Aged; Neuropsychological Tests; Quality of Life; Treatment Outcome	2006
[Clinical study of the French cohort of Gaucher disease patients]. La Revue de medecine interne, 2006, Volume: 27 Suppl 1 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Aged, 80 and over; Asthenia; Biomarkers; Child; Child, Preschool; Cohort Studies; Enzyme Inhibitors; Follow-Up Studies; Forecasting; France; Gaucher Disease; Glucosylceramidase; Humans; Infant; Infant, Newborn; Middle Aged; Recombinant Proteins; Splenectomy; Splenomegaly; Time Factors; Treatment Outcome	2006
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood, 2007, Oct-01, Volume: 110, Issue:7 Topics: 1-Deoxynojirimycin; Administration, Oral; Adolescent; Adult; Aged; Drug-Related Side Effects and Adverse Reactions; Female; Gaucher Disease; Glucosylceramidase; Humans; Injections, Intravenous; Male; Middle Aged; Quality of Life; Time Factors	2007
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet (London, England), 2000, Apr-29, Volume: 355, Issue:9214 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; Aged; Diarrhea; Enzyme Inhibitors; Female; Gaucher Disease; Glucosyltransferases; Half-Life; Hexosaminidases; Humans; Liver; Magnetic Resonance Imaging; Male; Middle Aged; Spleen; Tomography, X-Ray Computed	2000

Other Studies

48 other study(ies) available for miglustat and Gaucher Disease

Article	Year
Alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease. Bioorganic & medicinal chemistry, 2006, Dec-01, Volume: 14, Issue:23 Topics: 1-Deoxynojirimycin; Cell Line; Dose-Response Relationship, Drug; Gaucher Disease; Glucosamine; Glucosylceramidase; Humans; Molecular Chaperones; Molecular Mimicry; Structure-Activity Relationship	2006
Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease. Journal of medicinal chemistry, 2009, May-28, Volume: 52, Issue:10 Topics: Drug Design; Gaucher Disease; Glucosylceramidase; Humans; Imino Sugars; Lactams; Mutation, Missense; Structure-Activity Relationship; Substrate Specificity	2009
Click chemistry approach to new N-substituted aminocyclitols as potential pharmacological chaperones for Gaucher disease. Journal of medicinal chemistry, 2010, Jul-22, Volume: 53, Issue:14 Topics: Cyclitols; Gaucher Disease; Glucosylceramidase; Humans; Hydrogen Bonding; Hydrophobic and Hydrophilic Interactions; Models, Molecular; Structure-Activity Relationship; Triazoles	2010
Synthesis of N-alkylated noeurostegines and evaluation of their potential as treatment for Gaucher's disease. Bioorganic & medicinal chemistry letters, 2011, Mar-01, Volume: 21, Issue:5 Topics: Enzyme Assays; Gaucher Disease; Glucosylceramidase; Humans; Inhibitory Concentration 50; Nortropanes	2011
trans, trans-2-C-Aryl-3,4-dihydroxypyrrolidines as potent and selective β-glucosidase inhibitors: Pharmacological chaperones for Gaucher disease. European journal of medicinal chemistry, 2022, Aug-05, Volume: 238 Topics: beta-Glucosidase; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Humans; Molecular Docking Simulation; Pyrrolidines	2022
Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports. Journal of medical case reports, 2018, Jan-27, Volume: 12, Issue:1 Topics: 1-Deoxynojirimycin; Adult; Child, Preschool; Combined Modality Therapy; Drug Therapy, Combination; Enzyme Inhibitors; Enzyme Replacement Therapy; Female; Gaucher Disease; Glucosylceramidase; Hexosaminidases; Humans; Thrombocytopenia	2018
Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood cells, molecules & diseases, 2013, Volume: 51, Issue:2 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Child; Child, Preschool; Female; Gaucher Disease; Glycoside Hydrolase Inhibitors; Hemoglobins; Humans; Infant; Infant, Newborn; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Young Adult	2013
Long term differential consequences of miglustat therapy on intestinal disaccharidases. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:6 Topics: 1-Deoxynojirimycin; Caco-2 Cells; Disaccharidases; Gaucher Disease; Glycoproteins; Glycoside Hydrolase Inhibitors; Glycosylation; Humans; Intestines; Membrane Microdomains; Niemann-Pick Disease, Type C; Protein Transport	2014
Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patients. Pharmacoepidemiology and drug safety, 2015, Volume: 24, Issue:3 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Female; Follow-Up Studies; Gaucher Disease; Humans; Male; Product Surveillance, Postmarketing; Prospective Studies; Treatment Outcome	2015
Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series. Journal of medical case reports, 2015, Jun-23, Volume: 9 Topics: 1-Deoxynojirimycin; Aged, 80 and over; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Humans; Male; Treatment Outcome	2015
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease. Journal of the neurological sciences, 2015, Sep-15, Volume: 356, Issue:1-2 Topics: 1-Deoxynojirimycin; 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Brain; Cell Count; Cells, Cultured; Disease Models, Animal; Embryo, Mammalian; Gaucher Disease; Glycoside Hydrolase Inhibitors; Histocompatibility Antigens; Inositol; L-Lactate Dehydrogenase; Male; Mesencephalon; Mice; Mice, Inbred C57BL; Mitochondrial Diseases; Neurons; Parkinsonian Disorders; Tyrosine 3-Monooxygenase	2015
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet journal of rare diseases, 2016, Mar-24, Volume: 11 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Enzyme Replacement Therapy; Female; Gaucher Disease; Glucosylceramidase; Glucosylceramides; Humans; Male; Pyrrolidines	2016
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. Journal of medical case reports, 2016, Nov-08, Volume: 10, Issue:1 Topics: 1-Deoxynojirimycin; Adult; Drug Administration Schedule; Drug Eruptions; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Humans; Male; Quality of Life; Spleen; Treatment Outcome	2016
Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project. Blood cells, molecules & diseases, 2018, Volume: 68 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Female; Follow-Up Studies; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans; Liver; Male; Middle Aged; Organ Size; Prospective Studies; Spleen; Young Adult	2018
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report. Journal of medical case reports, 2017, Jan-20, Volume: 11, Issue:1 Topics: 1-Deoxynojirimycin; Administration, Intravenous; Blood-Brain Barrier; Child; Chronic Disease; Combined Modality Therapy; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Hexosaminidases; Humans; Male	2017
Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy. Blood cells, molecules & diseases, 2018, Volume: 68 Topics: 1-Deoxynojirimycin; Adult; Enzyme Inhibitors; Enzyme Replacement Therapy; Female; Gaucher Disease; Glucosylceramidase; Humans; Recombinant Proteins; Treatment Outcome	2018
A new framework for evaluating the health impacts of treatment for Gaucher disease type 1. Orphanet journal of rare diseases, 2017, 02-20, Volume: 12, Issue:1 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Humans	2017
Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcified tissue international, 2008, Volume: 83, Issue:1 Topics: 1-Deoxynojirimycin; Absorptiometry, Photon; Adult; Aged; Aged, 80 and over; Bone and Bones; Bone Density; Bone Remodeling; Enzyme Inhibitors; Female; Gaucher Disease; Glucosylceramidase; Humans; Magnetic Resonance Imaging; Male; Middle Aged	2008
Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiology and drug safety, 2009, Volume: 18, Issue:9 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Child; Child, Preschool; Enzyme Inhibitors; Europe; Female; Gaucher Disease; Humans; Male; Middle Aged; Nervous System Diseases; Retrospective Studies; Severity of Illness Index; Young Adult	2009
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood cells, molecules & diseases, 2010, Jan-15, Volume: 44, Issue:1 Topics: 1-Deoxynojirimycin; Africa, Northern; Compassionate Use Trials; Drug Contamination; Drugs, Investigational; Enzyme Inhibitors; Enzyme Replacement Therapy; Equipment Contamination; Europe; Gaucher Disease; Glucosylceramidase; Guidelines as Topic; Health Care Rationing; Health Priorities; Humans; International Cooperation; Middle East; Recombinant Proteins; Vesivirus	2010
[Treatment of bone involvement in Gaucher diseases with imiglucerase combined with miglustat]. Presse medicale (Paris, France : 1983), 2009, Volume: 38 Suppl 2 Topics: 1-Deoxynojirimycin; Adult; Bone Diseases; Drug Therapy, Combination; Enzyme Inhibitors; Female; Gaucher Disease; Glucosylceramidase; Humans	2009
Misdiagnosis of Niemann-Pick disease type C as Gaucher disease. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: 1-Deoxynojirimycin; Acid Phosphatase; Biomarkers; Carrier Proteins; Cells, Cultured; Cholesterol Esters; Diagnostic Errors; DNA Mutational Analysis; Enzyme Inhibitors; Enzyme Replacement Therapy; Esterification; Female; Gaucher Disease; Genetic Predisposition to Disease; Glucosylceramidase; Glucosyltransferases; Hepatomegaly; Heterozygote; Hexosaminidases; Humans; Infant; Intracellular Signaling Peptides and Proteins; Isoenzymes; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Phenotype; Predictive Value of Tests; Splenomegaly; Tartrate-Resistant Acid Phosphatase; Unnecessary Procedures	2010
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. Molecular genetics and metabolism, 2011, Volume: 104, Issue:4 Topics: 1-Deoxynojirimycin; Adult; Diagnostic Errors; Enzyme Inhibitors; Female; Gaucher Disease; Hepatomegaly; Humans; Male; Saposins; Splenomegaly; Treatment Failure	2011
Extended remission of B-cell lymphoma with monoclonal gammopathy in a patient with type 1 Gaucher disease treated with enzyme replacement therapy. Blood cells, molecules & diseases, 2012, Jan-15, Volume: 48, Issue:1 Topics: 1-Deoxynojirimycin; Enzyme Replacement Therapy; Female; Gaucher Disease; Glucosylceramidase; Humans; Lymphoma, B-Cell; Middle Aged; Monoclonal Gammopathy of Undetermined Significance; Splenectomy	2012
Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase. Molecular pharmaceutics, 2011, Dec-05, Volume: 8, Issue:6 Topics: 1-Deoxynojirimycin; Calorimetry, Differential Scanning; Drug Stability; Enzyme Stability; Gaucher Disease; Glucosylceramidase; Humans; Hydrogen-Ion Concentration; Models, Biological; Molecular Chaperones; Temperature	2011
[Guidelines for type 1 Gaucher's disease]. Medicina clinica, 2011, Volume: 137 Suppl 1 Topics: 1-Deoxynojirimycin; Algorithms; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Humans	2011
Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution. Upsala journal of medical sciences, 2012, Volume: 117, Issue:1 Topics: 1-Deoxynojirimycin; Adult; Aged; Aged, 80 and over; Enzyme Inhibitors; Female; Gaucher Disease; Humans; Male; Middle Aged; Retrospective Studies	2012
Gaucher disease: hematologic and oncologic implications. Clinical advances in hematology & oncology : H&O, 2011, Volume: 9, Issue:10 Topics: 1-Deoxynojirimycin; Carcinoma, Hepatocellular; Enzyme Inhibitors; Enzyme Replacement Therapy; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Humans; Liver; Multiple Myeloma; Risk Factors; Spleen; Splenectomy	2011
Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: 1-Deoxynojirimycin; beta-Galactosidase; Dietary Carbohydrates; Enzyme Inhibitors; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans; Intestinal Mucosa; Kinetics; Malabsorption Syndromes; Microvilli; Niemann-Pick Disease, Type C	2012
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet journal of rare diseases, 2012, Dec-27, Volume: 7 Topics: 1-Deoxynojirimycin; Adult; Enzyme Inhibitors; Enzyme Therapy; Female; Gaucher Disease; Humans; Male; Middle Aged; Prospective Studies; Treatment Outcome	2012
[Drug for Gaucher disease also works as sperm inhibitor. Is the "pill" for the man on its way?]. MMW Fortschritte der Medizin, 2003, Feb-13, Volume: 145, Issue:7 Topics: 1-Deoxynojirimycin; Animals; Contraceptive Agents, Male; Drug Implants; Enzyme Inhibitors; Female; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans; Injections, Subcutaneous; Male; Mice; Pregnancy; Spermatogenesis	2003
Therapeutic goals in Gaucher disease. La Revue de medecine interne, 2006, Volume: 27 Suppl 1 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Age Factors; Child; Evidence-Based Medicine; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Humans; Injections, Intravenous; Phenotype; Quality of Life; Recombinant Proteins; Splenectomy; Splenomegaly; Time Factors	2006
Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat. Parkinsonism & related disorders, 2007, Volume: 13, Issue:6 Topics: 1-Deoxynojirimycin; Administration, Oral; Aged; Enzyme Inhibitors; Follow-Up Studies; Gaucher Disease; Hexosaminidases; Humans; Male; Parkinson Disease; Peptidyl-Dipeptidase A	2007
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Biochemical pharmacology, 2007, May-01, Volume: 73, Issue:9 Topics: 1-Deoxynojirimycin; alpha-Glucosidases; Cell Proliferation; Cells, Cultured; Disaccharidases; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Glycoside Hydrolases; Humans; Imino Pyranoses; Lysosomes; Mutation; Oligosaccharides; Piperidines	2007
Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title. Parkinsonism & related disorders, 2008, Volume: 14, Issue:1 Topics: 1-Deoxynojirimycin; Aged; Enzyme Inhibitors; Gaucher Disease; Humans; Male; Parkinsonian Disorders	2008
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. Epilepsia, 2007, Volume: 48, Issue:7 Topics: 1-Deoxynojirimycin; Adult; Comorbidity; Disease Progression; Drug Administration Schedule; Drug Therapy, Combination; Dystonia; Electroencephalography; Enzyme Inhibitors; Epilepsies, Myoclonic; Gaucher Disease; Glucosylceramidase; Humans; Male; Nervous System Diseases; Recombinant Proteins; Syndrome; Treatment Outcome	2007
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. The Journal of biological chemistry, 2007, Sep-28, Volume: 282, Issue:39 Topics: 1-Deoxynojirimycin; Administration, Oral; Binding Sites; Crystallography, X-Ray; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Glucosylceramides; Humans; Hydrophobic and Hydrophilic Interactions; Molecular Chaperones; Recombinant Proteins; Structure-Activity Relationship	2007
[New data on Gaucher's disease]. La Revue de medecine interne, 2008, Volume: 29, Issue:3 Topics: 1-Deoxynojirimycin; Clinical Protocols; Clinical Trials, Phase I as Topic; Clinical Trials, Phase II as Topic; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Humans; Phenotype; Recombinant Proteins	2008
[Organization of Gaucher disease management in France]. La Revue de medecine interne, 2007, Volume: 28 Suppl 2 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Child; Child, Preschool; Enzyme Inhibitors; Female; France; Gaucher Disease; Glucosylceramidase; Hospitalization; Humans; Infant; Infant, Newborn; Male; Middle Aged; Parkinsonian Disorders; Registries; Saposins; Treatment Outcome	2007
Gaucher disease: improving management. Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:457 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans	2008
Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy. Pediatric radiology, 2008, Volume: 38, Issue:6 Topics: 1-Deoxynojirimycin; Child; Child, Preschool; Cohort Studies; Enzyme Inhibitors; Female; Follow-Up Studies; Gaucher Disease; Glucosylceramidase; Humans; Infant; Male; Retrospective Studies; Spleen; Splenic Diseases; Splenomegaly; Ultrasonography	2008
N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. The Journal of biological chemistry, 1994, Oct-28, Volume: 269, Issue:43 Topics: 1-Deoxynojirimycin; alpha-Glucosidases; Animals; Cells, Cultured; Disease Models, Animal; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Glycolipids; Humans; Mice; Oligosaccharides; Structure-Activity Relationship	1994
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. The Journal of biological chemistry, 1994, Mar-18, Volume: 269, Issue:11 Topics: 1-Deoxynojirimycin; Animals; Cell Line; Gaucher Disease; Glucosyltransferases; Glycolipids; Glycoside Hydrolase Inhibitors; Humans; Lysosomes; Macrophages; Mice; Models, Biological; Structure-Activity Relationship; Tumor Cells, Cultured	1994
Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells. Journal of neurochemistry, 1999, Volume: 72, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Apoptosis; Brain Neoplasms; Cell Death; Cell Division; Ceramides; Enzyme Inhibitors; Gaucher Disease; Glucosylceramides; Glucosyltransferases; Glycolipids; Mice; Morpholines; Neuroblastoma; Rats; Tumor Cells, Cultured	1999
Treatment of Gaucher's disease with OGT 918. Lancet (London, England), 2000, Aug-19, Volume: 356, Issue:9230 Topics: 1-Deoxynojirimycin; Administration, Oral; Enzyme Inhibitors; Gaucher Disease; Glycoside Hydrolase Inhibitors; Humans; Randomized Controlled Trials as Topic; Time; Treatment Outcome	2000
Treatment of Gaucher's disease with OGT 918. Lancet (London, England), 2000, Aug-19, Volume: 356, Issue:9230 Topics: 1-Deoxynojirimycin; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Glucosylceramides; Glycoside Hydrolase Inhibitors; Hepatomegaly; Hexosaminidases; Humans; Splenomegaly; Time	2000
Risks of Gaucher's treatment. Lancet (London, England), 2000, Oct-14, Volume: 356, Issue:9238 Topics: 1-Deoxynojirimycin; Anti-HIV Agents; Dose-Response Relationship, Drug; Gaucher Disease; Humans; Risk Factors	2000
Imino sugar therapy for type 1 Gaucher disease. Glycobiology, 2000, Volume: 10, Issue:11 Topics: 1-Deoxynojirimycin; Animals; Enzyme Inhibitors; Gaucher Disease; Glucosylceramidase; Glycoside Hydrolase Inhibitors; Glycosphingolipids; Humans; Mice	2000