Page last updated: 2024-08-23

miglustat and Acid beta-Glucosidase Deficiency

miglustat has been researched along with Acid beta-Glucosidase Deficiency in 82 studies

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 Acid beta-Glucosidase Deficiency

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 Acid beta-Glucosidase Deficiency

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 Acid beta-Glucosidase Deficiency

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