Compounds > miglustat
Page last updated: 2024-08-23

miglustat and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

miglustat has been researched along with Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia in 97 studies

Research

Studies (97)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's8 (8.25)29.6817
2010's70 (72.16)24.3611
2020's19 (19.59)2.80

Authors

AuthorsStudies
Donida, B; Dos Reis, BG; Faverzani, JL; Hammerschmidt, TG; Kessler, RG; Machado, AZ; Moura, AP; Moura, DJ; Reinhardt, LS; Sebastião, FM; Vargas, CR1
Gutić, M; Janković, SM; Milosavljević, MN1
Agrawal, N; Berry-Kravis, E; Bianconi, S; Bielekova, B; Do, AD; Farhat, NY; Masvekar, R; Porter, FD; Sinaii, N; Solomon, B; Xiao, C1
Alves, S; de Fátima Lopes, F; Encarnação, M; Fischinger Moura de Sousa, C; Giugliani, R; Hammerschmidt, TG; Lamberty Faverzani, J; Poswar de Oliveira, F; Regla Vargas, C; Ribeiro, I1
Backlund, PS; Blank, PS; Burkert, K; Cologna, SM; Crutchfield, CA; Li, W; Pergande, MR; Picache, JA; Porter, FD; Searle, BC; Toth, CL; Wassif, CA; Yanjanin-Farhat, NM1
Brassier, A; Broué, P; Cances, C; Chabrol, B; Dahmani-Rabehi, B; Eyer, D; Freihuber, C; Héron, B; Labarthe, F; Latour, P; Levade, T; Pichard, S; Sevin, C; Vanier, MT1
Berry-Kravis, E; Cawley, NX; Cologna, SM; Dang Do, A; Farhat, NM; Giddens, S; Liu, F; Luke, RA; Mohamed, HO; Porter, FD; Scott, KEJ1
Adriaenssens, E; Bembi, B; Colaco, A; Dardis, A; Davis, LC; Deegan, PB; Fernández-Suárez, ME; Galione, A; Kaya, E; Platt, FM; Porter, FD; Tan, CY; Zampieri, S1
Arima, H; Fukaura, M; Hayashi, A; Higaki, K; Higashi, T; Hoque, S; Irie, T; Ishitsuka, Y; Komiya, T; Kondo, Y; Motoyama, K; Sakata, N; Yamada, Y1
Brogden, G; Das, AM; Maalouf, K; Naim, HY; Rizk, S; Shammas, H; Walters, F1
Garver, WS; Giugliani, R; Héron, B; Imrie, J; Jahnova, H; Meaney, FJ; Moneuse, P; Morand, O; Nadjar, Y; Patterson, MC; Rosenberg, D; Schwierin, B; Vanier, MT1
Mengel, E; Moneuse, P; Patterson, MC; Pineda, M; Rosenberg, D; Vanier, MT1
Barrio, SC; Extremera, VC; Gutiérrez-Solana, LG; Jiménez, IB; la Concepción Fournier Del Castillo, M; Marín, LL; Orduña, BE1
Calì, F; Costanzo, MC; Fiumara, A; Musumeci, SA; Nicotera, AG; Vinci, M; Vitello, A1
Keage, M; Lewis, C; Schubiger, D; Velakoulis, D; Vogel, AP; Walterfang, M; Watanabe, M1
Farhat, N; King, MC; Machielse, L; Porter, FD; Sinaii, N; Smith, AC; Solomon, BI1
Eto, K; Hamada, Y; Han, G; Imanishi, A; Kanbayashi, T; Kawazoe, T; Kondo, H; Kumagai, T; Mishima, K; Noguchi, A; Sakai, N; Shimizu, T; Takahashi, T; Tsutsui, K1
Antipova, V; Holzmann, C; Rolfs, A; Witt, M; Wree, A1
Çakar, NE; Önal, H1
Günther, R; Holzmann, C; Meyer, A; Rolfs, A; Schmitt, O; Witt, M; Wree, A1
Stellitano, LA; Verity, CM; Winstone, AM1
Adachi, K; Itamura, S; Jimbo, E; Miyauchi, A; Nakamura, S; Nakano, Y; Nanba, E; Narita, A; Osaka, H; Usui, M; Yamagata, T1
Claridge, TDW; Farhat, N; Grootveld, M; Nicoli, ER; Platt, FM; Porter, FD; Probert, F; Ruiz-Rodado, V; Vruchte, DT; Wassif, CA1
Abe, K; Sakai, N1
Elben, S; Groiss, SJ; Hassan, SS; Schnitzler, A; Trenado, C1
Bonatto, MP; Burin, MG; de Oliveira Schmitt Ribas, G; Giugliani, R; Hammerschmidt, TG; Kessler, RG; Michelin-Tirelli, K; Saraiva-Pereira, ML; Souza, FTS; Trapp, F; Vargas, CR1
De Rosa, A; Dubbioso, R; Esposito, M; Iodice, R; Manganelli, F; Ruggiero, L; Saccà, F; Santoro, L; Spina, E; Topa, A; Tozza, S1
Patterson, MC; Pineda, M; Walterfang, M1
Anheim, M; Audoin, B; Ayrignac, X; Cintas, P; De Gaillarbois, TD; Degardin, A; Deramecourt, V; Goizet, C; Héron, B; Hütter-Moncada, AL; Kaphan, E; Lamari, F; Latour, P; Laurencin, C; Martzolff, L; Nadjar, Y; Roze, E; Tilikete, C; Tranchant, C; Vanier, MT1
Eratne, D; Farrand, S; Goh, AMY; Kelso, W; Mangelsdorf, S; Rego, T; Velakoulis, D; Walterfang, M1
Insua, JL; Juríčková, K; Karimzadeh, P; Kolb, SA; Kolnikova, M; Malinova, V; Pineda, M; Velten, C1
Anderson, K; Griffiths, TD; Lad, M; Thomas, RH1
Bräuer, AU; Burstein, C; Engelmann, R; Frank, M; Gläser, A; Gräler, M; Müller-Hilke, B; Neidhardt, J; Neßlauer, AM; Rolfs, A; Witt, M; Wree, A1
Ikenoya, S; Kitatani, T; Takahashi, S1
Blank, PS; Cluzeau, CV; Cologna, SM; Dail, MK; Lieberman, AP; Porter, FD; Siebel, S; Toth, CL; Wassif, CA; Yanjanin, NM1
Bautista, J; Cáceres-Redondo, MT; Carrillo, F; Coll, MJ; Cordones, I; Escudero, M; Jesús, S; Macías-Vidal, J; Mir, P1
Döme, P; Faludi, G; Gonda, X1
Bagel, JH; Davidson, C; Fan, M; Fujiwara, H; Ory, DS; Porter, FD; Schaffer, JE; Sidhu, R; Tortelli, B; Vite, C; Walkley, SU; Yanjanin, NM; Zhang, J1
Hadjivassiliou, M; Kheder, A; Olpin, S; Scott, C1
Hanon, C; Maubert, A; Metton, JP1
Frech, MJ; Holzmann, C; Hovakimyan, M; Hübner, R; Lukas, J; Maass, F; Petersen, J; Rolfs, A; Witt, M; Wree, A1
Bembi, B; Bertini, E; Ceravolo, F; D'Amico, A; Dardis, A; Deodato, F; Dionisi-Vici, C; Ginocchio, VM; Verrigni, D1
Andrejkovics, M; Balla, P; Balogh, I; Berényi, E; Lengyel, A; Magyar, A; Oláh, E; Szakszon, K; Szegedi, I1
Lyseng-Williamson, KA1
Bush, AI; Faux, NG; Firnkes, S; Ganio, G; Hastings, C; Hung, YH; Killilea, DW; Ory, DS; Porter, FD; Volitakis, I; Walterfang, M; Yanjanin, N1
Al Eisa, N; Amraoui, Y; Arias, B; Beck, M; Cortina-Borja, M; Cousins, A; Cox, TM; Hartung, R; Hastings, C; Hendriksz, CJ; Imrie, J; Jacklin, E; Jeyakumar, M; Jiang, X; Lachmann, RH; Mengel, E; Ory, DS; Platt, FM; Porter, FD; Ramaswami, U; Riddick, K; Rimmele, F; Rolfs, A; Runz, H; Sidhu, R; Sillence, DJ; Simmons, L; Smith, DA; Speak, AO; Taylor, C; te Vruchte, D; Wallom, KL; Wassif, CA; Wraith, JE; Wright, N; Yanjanin, NM1
Al Eisa, N; Platt, FM; Smith, C; Smith, DA; Wallom, KL; Williams, IM1
Amiri, M; Naim, HY2
Hawlitschka, A; Hovakimyan, M; Lukas, J; Maass, F; Petersen, J; Rolfs, A; Schmitt, O; Witt, M; Wree, A1
Alpa, M; Andria, G; Ardissone, A; Bembi, B; Bertini, E; Bruschini, D; Caviglia, S; D'Amico, A; Dardis, A; Del Giudice, E; Della Casa, R; Deodato, F; Di Rocco, M; Dionisi-Vici, C; Fecarotta, S; Federico, A; Filla, A; Fiumara, A; Gabrielli, O; Mansi, G; Palmeri, S; Parenti, G; Roccatello, D; Romano, A; Russo, C; Santoro, L; Uziel, G1
Berezenko, VS; Dyba, MB1
Cornelisse, P; Mengel, E; Muller, A; Patterson, MC; Pineda, M; Schwierin, B; Vanier, MT1
Abel, L; Bowman, EA; Desmond, P; Fahey, M; Velakoulis, D; Walterfang, M1
Barone, R; Di Rocco, M; Fiumara, A; Madeo, A1
Claridge, TD; Edgar, M; Grootveld, M; Lachmann, RH; Platt, FM; Probert, F; Ruiz-Rodado, V; te Vruchte, D; Tocchio, AZ; Zhang, X1
Abel, LA; Bowman, EA; Stainer, MJ; Velakoulis, D; Walterfang, M1
Cardinale, A; Cutarelli, A; D'Arcangelo, G; Frank, C; Grossi, D; Merlo, D; Racaniello, M; Rufini, S; Tancredi, V; Zaratti, A1
Audoin, B; Burzykowski, T; Chabrol, B; Galanaud, D; Kaphan, E; Sedel, F; Tourbah, A; Tranchant, C; Vanier, MT1
Burin, M; de Mari, J; Deon, M; Giugliani, R; Kessler, R; Mescka, C; Michelin, K; Ribas, GS; Saraiva-Pereira, ML; Souza, HM; Trapp, F; Vargas, CR1
Degtyareva, AV; Mikhailova, SV; Puchkova, AA; Tumanova, EL; Zakharova, EY1
Alves, S; Coutinho, MF; Santos, JI1
Cuisset, JM; Dobbelaere, D; Latour, P; Michaud, L; Sukno, S; Trauffler, A; Vallée, L1
Grittner, U; Holzmann, C; Rolfs, A; Schlegel, V; Thieme, M; Witt, M; Wree, A1
Adanyeguh, I; Galanaud, D; Masingue, M; Mochel, F; Nadjar, Y; Sedel, F1
Cordeiro, ML; Liberalesso, PB; Löhr, A; Raskin, S; Santos, ML; Telles, DS; Vieira, SC1
Baumann, N; Billette de Villemeur, T; Feillet, F; Galanaud, D; Guffon, N; Heron, B; Lehéricy, S; Leveque, N; Sedel, F; Tourbah, A; Vanier, MT1
Bembi, B; Giorgino, R; Hwu, WL; Korenke, GC; Luzy, C; Marquardt, T; Mengel, E; Patterson, MC; Pineda, M; Rohrbach, M; Sedel, F; Walterfang, M; Wraith, JE1
Ali, NF; Davidson, CD; Dobrenis, K; Micsenyi, MC; Ory, DS; Renault, S; Stephney, G; Vanier, MT; Walkley, SU1
Abel, L; Chadha-Boreham, H; Giorgino, R; Jacklin, E; Luzy, C; Patterson, MC; Vecchio, D; Wraith, JE2
Abegg, M; Barton, JJ; Lanyon, LJ; Mattman, A; Scheel, M2
Coll, MJ; de la Barca, OB; Domingo, R; Fumero, LM; Gaspar, A; Macías-Vidal, J; O'Callaghan, M; Peñas, JJ; Pérez, AV; Perez-Poyato, MS; Pineda, M; Pocovi, M; Portal, LR; Roldán, S; Silva, MT; Temudo, T; Vilaseca, MA1
Dvorakova, L; Gurda, B; Kothare, SV; Steinborn, B; Vlaskova, H; Zarowski, M1
Vanier, MT1
Sedel, F2
Chabrol, B1
Lo, SM; McNamara, J; Mistry, PK; Seashore, MR1
Fornfeist, S2
Amitrano, M; Andria, G; Astarita, L; Bruschini, D; Della Casa, R; Fecarotta, S; Parenti, G; Romano, A1
Guthoff, R; Hovakimyan, M; Lukas, J; Maass, F; Petersen, J; Reichard, M; Rolfs, A; Stachs, O; Witt, M; Wree, A1
Chien, YH; Huang, AC; Hwu, WL; Lee, NC; Peng, SF; Su, SC; Tsai, LK; Tseng, CC; Yang, CC1
Bryan, C; Crooks, A; Ding, W; Dingemanse, J; O'Donnell, P; Prociuk, M; Sikora, T; Stein, VM; Vanier, MT; Vite, CH; Walkley, SU1
Baruteau, J; Chabrol, B; Cuisset, JM; de Villemeur, TB; Dobbelaere, D; Eyer, D; Héron, B; Labarthe, F; Latour, P; Maurey, H; Ogier, H; Sedel, F; Valayannopoulos, V; Vanier, MT1
Barone, R; Dardis, A; Di Rocco, M; Fiumara, A; Madeo, A1
Klünemann, HH; Santosh, PJ; Sedel, F1
Gordo, MM; Marfa, MP; Pérez-Poyato, MS1
Biancini, GB; Coelho, JC; Mescka, CP; Negretto, G; Pires, R; Ribas, GS; Rodrigues, D; Vanzin, CS; Vargas, CR; Wajner, M; Wayhs, CA1
Chien, YH; Imrie, J; Patterson, MC; Rushton, D; Schubiger, D; Walterfang, M1
Aryani, O; Ashrafi, MR; Ghofrani, M; Houshmand, M; Karimzadeh, P; Rahmanifar, A; Rezayi, A; Salehpour, S; Shafeghati, Y; Shiva, F; Shoar, BN; Taghdiri, MM; Tavasoli, A; Tonekaboni, SH; Zaman, T1
Drevon, H; Mengel, E; Muller, A; Patterson, MC; Pineda, M; Schwierin, B; Vanier, MT; Wijburg, FA1
Chen, SJ; Chien, YH; Huang, AC; Hwu, WL; Lee, NC; Peng, SF; Tsai, LK1
Abel, L; Patterson, MC; Prady, H; Vecchio, D; Wraith, JE1
Jeyakumar, M; Platt, FM1

Reviews

13 review(s) available for miglustat and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

ArticleYear
Miglustat in Niemann-Pick disease type C patients: a review.
    Orphanet journal of rare diseases, 2018, 08-15, Volume: 13, Issue:1

    Topics: 1-Deoxynojirimycin; Biomarkers; Enzyme Inhibitors; Humans; Niemann-Pick Disease, Type C; Treatment Outcome

2018
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.
    CNS drugs, 2019, Volume: 33, Issue:2

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; Brain; Cognitive Dysfunction; Diagnosis, Differential; GABAergic Neurons; Humans; Models, Neurological; Neuronal Plasticity; Niemann-Pick Disease, Type C; Psychotic Disorders

2019
[Pharmacological and clinical profiles of miglustat (Brazaves(®)) for the treatment of Niemann-Pick type C disease].
    Nihon yakurigaku zasshi. Folia pharmacologica Japonica, 2013, Volume: 141, Issue:3

    Topics: 1-Deoxynojirimycin; Animals; Calcium; Clinical Trials as Topic; Disease Models, Animal; Enzyme Inhibitors; Glucosyltransferases; Humans; Lysosomes; Mice; Niemann-Pick Disease, Type C

2013
[Adult psychiatric aspects of Niemann-Pick disease].
    Neuropsychopharmacologia Hungarica : a Magyar Pszichofarmakologiai Egyesulet lapja = official journal of the Hungarian Association of Psychopharmacology, 2013, Volume: 15, Issue:2

    Topics: 1-Deoxynojirimycin; Age of Onset; Cataplexy; Cognition Disorders; Enzyme Inhibitors; Humans; Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type B; Niemann-Pick Disease, Type C; Niemann-Pick Diseases; Sphingolipids; Sphingomyelin Phosphodiesterase

2013
[Adult onset Niemann-Pick type C disease and psychosis: literature review].
    L'Encephale, 2013, Volume: 39, Issue:5

    Topics: 1-Deoxynojirimycin; Adult; Carrier Proteins; Cooperative Behavior; Dementia; Early Diagnosis; Enzyme Inhibitors; Follow-Up Studies; France; Glycoproteins; Humans; Interdisciplinary Communication; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Neurologic Examination; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Psychiatry; Psychotic Disorders; Schizophrenia; Schizophrenic Psychology; Sequence Analysis, DNA; Vesicular Transport Proteins

2013
Miglustat: a review of its use in Niemann-Pick disease type C.
    Drugs, 2014, Volume: 74, Issue:1

    Topics: 1-Deoxynojirimycin; Animals; Enzyme Inhibitors; Humans; Niemann-Pick Disease, Type C

2014
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
Niemann-Pick disease type C.
    Orphanet journal of rare diseases, 2010, Jun-03, Volume: 5

    Topics: 1-Deoxynojirimycin; Age Factors; Age of Onset; Biological Transport; Cholesterol; Genetic Association Studies; Genetic Testing; Humans; Niemann-Pick Disease, Type C

2010
[Clinical diagnosis of the adult form of Niemann-Pick type C disease].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010, Volume: 17 Suppl 2

    Topics: 1-Deoxynojirimycin; Adult; Cerebellar Ataxia; Cognition Disorders; Deglutition Disorders; Dysarthria; Enzyme Inhibitors; Epilepsy; Humans; Mental Disorders; Movement Disorders; Niemann-Pick Disease, Type C; Splenomegaly; Supranuclear Palsy, Progressive

2010
[Therapies in the Niemann-Pick type C disease].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010, Volume: 17 Suppl 2

    Topics: 1-Deoxynojirimycin; Antidepressive Agents; Cataplexy; Diet; Enzyme Inhibitors; Humans; Niemann-Pick Disease, Type C

2010
Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.
    International journal of psychiatry in clinical practice, 2012, Volume: 16, Issue:3

    Topics: 1-Deoxynojirimycin; Age of Onset; Ataxia; Diagnosis, Differential; Disease Progression; Enzyme Inhibitors; Genetic Testing; Humans; Magnetic Resonance Spectroscopy; Niemann-Pick Disease, Type C; Ophthalmoplegia; Prevalence; Psychotic Disorders; Splenomegaly; Treatment Outcome

2012
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.
    Orphanet journal of rare diseases, 2012, Oct-06, Volume: 7

    Topics: 1-Deoxynojirimycin; Animals; Deglutition Disorders; Humans; Niemann-Pick Disease, Type C

2012
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

5 trial(s) available for miglustat and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

ArticleYear
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
    Orphanet journal of rare diseases, 2015, Feb-27, Volume: 10

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Child, Preschool; Drug Administration Schedule; Enzyme Inhibitors; Female; Humans; Infant; Italy; Male; Niemann-Pick Disease, Type C; Young Adult

2015
Long-term miglustat therapy in children with Niemann-Pick disease type C.
    Journal of child neurology, 2010, Volume: 25, Issue:3

    Topics: 1-Deoxynojirimycin; Child; Child, Preschool; Deglutition; Enzyme Inhibitors; Female; Humans; Male; Motor Activity; Niemann-Pick Disease, Type C; Prospective Studies; Saccades; Time Factors; Treatment Outcome

2010
Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:4

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Deglutition; Diarrhea; Female; Humans; Niemann-Pick Disease, Type C; Walking; Weight Loss

2010
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
    Orphanet journal of rare diseases, 2012, Jun-07, Volume: 7

    Topics: 1-Deoxynojirimycin; Adolescent; Age of Onset; Carrier Proteins; Child; Child, Preschool; Cohort Studies; Enzyme Inhibitors; Female; France; Glycoproteins; Humans; Infant; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Prospective Studies; Treatment Outcome; Vesicular Transport Proteins

2012
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.
    The Lancet. Neurology, 2007, Volume: 6, Issue:9

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Age Factors; Analysis of Variance; Child; Child, Preschool; Cohort Studies; Deglutition; Double-Blind Method; Drug Administration Schedule; Enzyme Inhibitors; Female; Humans; Male; Niemann-Pick Disease, Type C; Retrospective Studies; Saccades; Severity of Illness Index

2007

Other Studies

79 other study(ies) available for miglustat and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

ArticleYear
Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10.
    Experimental cell research, 2022, 07-15, Volume: 416, Issue:2

    Topics: 1-Deoxynojirimycin; Acetylcysteine; Antioxidants; Cholesterol; Cytokines; Enzyme Inhibitors; Humans; Inflammation; Niemann-Pick Disease, Type C; Ubiquinone

2022
Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.
    International journal of clinical pharmacy, 2022, Volume: 44, Issue:6

    Topics: 1-Deoxynojirimycin; Adolescent; Cost-Benefit Analysis; Enzyme Inhibitors; Humans; Niemann-Pick Disease, Type C

2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2023, Volume: 25, Issue:3

    Topics: 2-Hydroxypropyl-beta-cyclodextrin; Biomarkers; Cross-Sectional Studies; Humans; Intermediate Filaments; Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type C

2023
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
    Archives of biochemistry and biophysics, 2023, Volume: 735

    Topics: Becaplermin; Biomarkers; Brain-Derived Neurotrophic Factor; Humans; Niemann-Pick Disease, Type C; Plasminogen Activator Inhibitor 1; Platelet-Derived Growth Factor

2023
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.
    Proteomics, 2023, Volume: 23, Issue:11

    Topics: Animals; Mice; Neurodegenerative Diseases; Niemann-Pick Disease, Type C; Proteins; Proteomics

2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
    Orphanet journal of rare diseases, 2023, 07-21, Volume: 18, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Nervous System Diseases; Niemann-Pick Disease, Type C; Pregnancy; Retrospective Studies; Young Adult

2023
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
    Molecular genetics and metabolism, 2023, Volume: 140, Issue:3

    Topics: Adolescent; Biomarkers; Child; Cross-Sectional Studies; Humans; Niemann-Pick Disease, Type C; Phenotype; Ubiquitin Thiolesterase

2023
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3

    Topics: 1-Deoxynojirimycin; Adult; ATP Binding Cassette Transporter 1; Humans; Intracellular Signaling Peptides and Proteins; Middle Aged; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Treatment Outcome

2020
Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in
    International journal of molecular sciences, 2020, Jan-30, Volume: 21, Issue:3

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; CHO Cells; Cholesterol; Cricetulus; Cyclodextrins; Lysosomes; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Sphingolipids

2020
Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
    International journal of molecular sciences, 2020, Mar-19, Volume: 21, Issue:6

    Topics: 1-Deoxynojirimycin; Cells, Cultured; Cholesterol; Fibroblasts; Genotype; Humans; Membrane Microdomains; Membrane Proteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Phenotype; Protein Transport; Sphingolipids

2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:5

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Enzyme Inhibitors; Female; Humans; Infant; Infant, Newborn; Internationality; Male; Middle Aged; Niemann-Pick Disease, Type C; Registries; Retrospective Studies; Survival Analysis; Treatment Outcome; Young Adult

2020
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
    Orphanet journal of rare diseases, 2020, 04-25, Volume: 15, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Enzyme Inhibitors; Female; Humans; Male; Niemann-Pick Disease, Type C; Prospective Studies; Registries; Treatment Outcome

2020
Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case.
    Neurodegenerative disease management, 2020, Volume: 10, Issue:2

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Cognition; Disease Progression; Early Diagnosis; Female; Glycoside Hydrolase Inhibitors; Humans; Longitudinal Studies; Niemann-Pick Disease, Type C

2020
Novel compound heterozygous mutation in
    Journal of genetics, 2020, Volume: 99

    Topics: 1-Deoxynojirimycin; Adult; Apathy; Brain; Cognitive Dysfunction; Corpus Callosum; Deglutition Disorders; Female; High-Throughput Nucleotide Sequencing; Humans; Intracellular Signaling Peptides and Proteins; Language Disorders; Magnetic Resonance Imaging; Mutation, Missense; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Vesicular Transport Proteins

2020
Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.
    Dysphagia, 2021, Volume: 36, Issue:3

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Deglutition; Deglutition Disorders; Enzyme Inhibitors; Humans; Neurodegenerative Diseases; Niemann-Pick Disease, Type C; Retrospective Studies

2021
Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.
    JAMA neurology, 2020, 12-01, Volume: 77, Issue:12

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Child, Preschool; Cohort Studies; Deglutition; Deglutition Disorders; Enzyme Inhibitors; Female; Humans; Male; Niemann-Pick Disease, Type C; Pneumonia, Aspiration

2020
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.
    Orphanet journal of rare diseases, 2020, 09-29, Volume: 15, Issue:1

    Topics: 1-Deoxynojirimycin; Cataplexy; Female; Humans; Male; Niemann-Pick Disease, Type C; Orexins

2020
Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.
    International journal of molecular sciences, 2021, Mar-03, Volume: 22, Issue:5

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; Cyclodextrins; Disease Models, Animal; Drug Therapy, Combination; Female; Male; Mice; Mice, Inbred BALB C; Niemann-Pick Disease, Type C; Pregnanolone

2021
Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.
    Ideggyogyaszati szemle, 2021, Mar-30, Volume: 74, Issue:3-4

    Topics: 1-Deoxynojirimycin; Genetic Association Studies; Humans; Mutation; Niemann-Pick Disease, Type C

2021
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1.
    International journal of molecular sciences, 2017, Apr-06, Volume: 18, Issue:4

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; Apoptosis; beta-Cyclodextrins; Cell Proliferation; Disease Models, Animal; Humans; Intracellular Signaling Peptides and Proteins; Mice; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Olfactory Mucosa; Pregnanolone; Proteins

2017
Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.
    Developmental medicine and child neurology, 2017, Volume: 59, Issue:9

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Age of Onset; Brain; Child; Child, Preschool; Delayed Diagnosis; Disease Progression; Epidemiological Monitoring; Female; Follow-Up Studies; Glycoside Hydrolase Inhibitors; Humans; Infant; Intellectual Disability; Male; Niemann-Pick Disease, Type C; Prospective Studies; Time Factors; United Kingdom

2017
Miglustat therapy in a case of early-infantile Niemann-Pick type C.
    Brain & development, 2017, Volume: 39, Issue:10

    Topics: 1-Deoxynojirimycin; Base Sequence; Carrier Proteins; Child, Preschool; Developmental Disabilities; Disease Progression; Glucosyltransferases; Humans; Intracellular Signaling Peptides and Proteins; Japan; Male; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2017
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.
    Scientific reports, 2017, 07-24, Volume: 7, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Isoleucine; Male; Metabolomics; Niemann-Pick Disease, Type C; Proton Magnetic Resonance Spectroscopy; Triglycerides; Young Adult

2017
Patient with Niemann-Pick disease type C: over 20 years' follow-up.
    BMJ case reports, 2017, Aug-22, Volume: 2017

    Topics: 1-Deoxynojirimycin; Adult; Diagnosis, Differential; Enzyme Inhibitors; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Niemann-Pick Disease, Type C

2017
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2018, Volume: 47

    Topics: 1-Deoxynojirimycin; Cerebellum; Cognition; Cortical Excitability; Glycoside Hydrolase Inhibitors; Humans; Male; Niemann-Pick Disease, Type C; Transcranial Magnetic Stimulation; Young Adult

2018
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2018, Volume: 66

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Cholestanols; Female; Filipin; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Male; Membrane Glycoproteins; Mutation; Niemann-Pick Disease, Type C; Skin; Young Adult

2018
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018, Volume: 39, Issue:6

    Topics: 1-Deoxynojirimycin; Adult; Cognitive Dysfunction; Enzyme Inhibitors; Female; Humans; Niemann-Pick Disease, Type C; Siblings; Treatment Failure

2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
    Orphanet journal of rare diseases, 2018, 10-01, Volume: 13, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Enzyme Inhibitors; Female; France; Humans; Male; Middle Aged; Niemann-Pick Disease, Type C; Retrospective Studies; Young Adult

2018
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
    Orphanet journal of rare diseases, 2019, 01-08, Volume: 14, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Child, Preschool; Female; Humans; Linear Models; Male; Niemann-Pick Disease, Type C; Prognosis; Retrospective Studies

2019
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.
    Practical neurology, 2019, Volume: 19, Issue:5

    Topics: 1-Deoxynojirimycin; Adult; Female; Humans; Lysosomal Storage Diseases; Neurodegenerative Diseases; Niemann-Pick Disease, Type C; Skin; Treatment Outcome

2019
A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.
    Lipids in health and disease, 2019, Jun-28, Volume: 18, Issue:1

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; Cell Separation; Disease Models, Animal; Flow Cytometry; Genotype; Lipid Metabolism; Mice; Niemann-Pick Disease, Type C; Pregnanolone; Spleen

2019
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Alleles; Animals; Biomarkers; Brain; Cerebellum; Cerebral Cortex; Chemokine CCL3; Chemokine CXCL5; Child; Child, Preschool; Complement C3; Disease Models, Animal; Female; Gene Expression Regulation; Humans; Infant; Infant, Newborn; Inflammation; Interleukins; Male; Mice; Mice, Inbred BALB C; Mice, Transgenic; Niemann-Pick Disease, Type C; Young Adult

2014
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
    Parkinsonism & related disorders, 2013, Volume: 19, Issue:10

    Topics: 1-Deoxynojirimycin; Activities of Daily Living; Adult; Anti-Bacterial Agents; Carrier Proteins; Disability Evaluation; Enzyme Inhibitors; Filipin; Glycoside Hydrolase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Phenotype; Psychomotor Performance; Saccades

2013
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
    Journal of lipid research, 2013, Volume: 54, Issue:10

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; beta-Cyclodextrins; Biomarkers; Cats; Chromatography, High Pressure Liquid; Drug Evaluation, Preclinical; Female; Gangliosides; Humans; Male; Mice; Mice, Inbred BALB C; Mice, Knockout; Niemann-Pick Disease, Type C; Organ Specificity; Sphingolipids; Sulfoglycosphingolipids; Tandem Mass Spectrometry

2013
Niemann-Pick type C: a potentially treatable disorder?
    Practical neurology, 2013, Volume: 13, Issue:6

    Topics: 1-Deoxynojirimycin; Adult; Enzyme Inhibitors; Humans; Male; Niemann-Pick Disease, Type C

2013
Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice.
    Neuroscience, 2013, Nov-12, Volume: 252

    Topics: 1-Deoxynojirimycin; Animals; Cognition; Cyclodextrins; Disease Models, Animal; Drug Therapy, Combination; Mice; Mice, Knockout; Microscopy, Electron, Transmission; Motor Activity; Neuroprotective Agents; Niemann-Pick Disease, Type C; Pregnanolone

2013
Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.
    Molecular genetics and metabolism, 2013, Volume: 110, Issue:3

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Age of Onset; Child; Child, Preschool; Delayed Diagnosis; Disabled Persons; Enzyme Inhibitors; Female; Glycoside Hydrolase Inhibitors; Humans; Male; Niemann-Pick Disease, Type C; Retrospective Studies; Treatment Outcome; Young Adult

2013
Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2014, Volume: 18, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Age of Onset; Atrophy; Cerebrum; Humans; Male; Niemann-Pick Disease, Type C; Psychotic Disorders; Treatment Outcome

2014
Altered transition metal homeostasis in Niemann-Pick disease, type C1.
    Metallomics : integrated biometal science, 2014, Volume: 6, Issue:3

    Topics: 1-Deoxynojirimycin; Animals; Brain; Ceruloplasmin; Enzyme Inhibitors; Female; Gene Deletion; Homeostasis; Humans; Intracellular Signaling Peptides and Proteins; Male; Metals; Mice; Mice, Inbred BALB C; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Proteins; Transition Elements

2014
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
    The Journal of clinical investigation, 2014, Volume: 124, Issue:3

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; B-Lymphocytes; beta-Cyclodextrins; Biomarkers; Bone Marrow Transplantation; Case-Control Studies; Child; Child, Preschool; Humans; Infant; Intracellular Signaling Peptides and Proteins; Lysosomes; Mice; Mice, Inbred BALB C; Mice, Knockout; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Prospective Studies; Proteins; Severity of Illness Index; Treatment Outcome

2014
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice.
    Neurobiology of disease, 2014, Volume: 67

    Topics: 1-Deoxynojirimycin; Animals; Cerebellum; Curcumin; Drug Therapy, Combination; Ibuprofen; Intracellular Signaling Peptides and Proteins; Mice; Mice, Inbred BALB C; Mice, Knockout; Neuroprotective Agents; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Proteins

2014
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
Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease.
    Journal of neuroscience research, 2015, Volume: 93, Issue:3

    Topics: 1-Deoxynojirimycin; Animals; Cell Count; Cerebellum; Cyclodextrins; Disease Models, Animal; Disease Progression; Drug Therapy, Combination; Enzyme Inhibitors; Mice; Nerve Degeneration; Neurons; Niemann-Pick Disease, Type C; Pregnanolone

2015
[Niemann-Pick disease--a rare disease in children's hepatology (a clinical case)].
    Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology, 2014, Issue:8

    Topics: 1-Deoxynojirimycin; Adolescent; Carrier Proteins; Female; Humans; Intracellular Signaling Peptides and Proteins; Liver; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Treatment Outcome

2014
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
    Orphanet journal of rare diseases, 2015, May-28, Volume: 10

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Disease Progression; Enzyme Inhibitors; Female; Humans; Male; Niemann-Pick Disease, Type C; Prospective Studies; Treatment Outcome; Young Adult

2015
Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat.
    Journal of neurology, 2015, Volume: 262, Issue:9

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Caudate Nucleus; Cerebellum; Disease Progression; Enzyme Inhibitors; Female; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Male; Middle Aged; Niemann-Pick Disease, Type C; Organ Size; Putamen; Thalamus; Young Adult

2015
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.
    Pediatric neurology, 2015, Volume: 53, Issue:4

    Topics: 1-Deoxynojirimycin; Central Nervous System Agents; Child; Deglutition Disorders; Female; Humans; Male; Motor Activity; Niemann-Pick Disease, Type C; Saccades; Treatment Outcome

2015
Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies.
    Journal of pharmaceutical and biomedical analysis, 2016, Jan-05, Volume: 117

    Topics: 1-Deoxynojirimycin; Animals; Cohort Studies; Enzyme Inhibitors; Humans; Magnetic Resonance Spectroscopy; Male; Niemann-Pick Disease, Type C; Protons; Rats; Rats, Sprague-Dawley; Valproic Acid

2016
Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.
    Orphanet journal of rare diseases, 2015, Dec-21, Volume: 10

    Topics: 1-Deoxynojirimycin; Adult; Enzyme Inhibitors; Humans; Longitudinal Studies; Niemann-Pick Disease, Type C; Saccades; Young Adult

2015
Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease.
    Neural plasticity, 2016, Volume: 2016

    Topics: 1-Deoxynojirimycin; Animals; Disease Models, Animal; Enzyme Inhibitors; Extracellular Signal-Regulated MAP Kinases; Hippocampus; Mice; Neuronal Plasticity; Niemann-Pick Disease, Type C; Phosphorylation; Synapses

2016
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
    Journal of neurology, 2016, Volume: 263, Issue:5

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aspartic Acid; Brain; Choline; Disability Evaluation; Disease Progression; Enzyme Inhibitors; Female; Follow-Up Studies; Humans; Linear Models; Longitudinal Studies; Male; Niemann-Pick Disease, Type C; Patient Dropouts; Treatment Outcome; Young Adult

2016
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Clinica chimica acta; international journal of clinical chemistry, 2016, Aug-01, Volume: 459

    Topics: 1-Deoxynojirimycin; Brazil; Carrier Proteins; Cholestanols; Filipin; Glycoproteins; Hexosaminidases; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Staining and Labeling; Vesicular Transport Proteins

2016
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.
    Journal of medical case reports, 2016, Jun-01, Volume: 10, Issue:1

    Topics: 1-Deoxynojirimycin; Child, Preschool; Cholestasis, Intrahepatic; Diagnostic Errors; Galactosemias; Genetic Testing; Glycoside Hydrolase Inhibitors; Hepatomegaly; Humans; Infant; Infant, Newborn; Jaundice, Neonatal; Liver; Male; Niemann-Pick Disease, Type C; Russia; Splenomegaly

2016
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
    Journal of medical case reports, 2016, Sep-06, Volume: 10, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Carrier Proteins; Cerebellum; Cognition Disorders; Enzyme Inhibitors; Epilepsy; Humans; Intracellular Signaling Peptides and Proteins; Magnetic Resonance Imaging; Male; Membrane Glycoproteins; Mental Disorders; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Ophthalmoplegia; Treatment Outcome

2016
Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice.
    International journal of molecular sciences, 2016, Nov-09, Volume: 17, Issue:11

    Topics: 1-Deoxynojirimycin; Animals; Behavior, Animal; Body Weight; Brain; Cognition; Cyclodextrins; Disease Models, Animal; Drug Administration Schedule; Drug Combinations; Hypolipidemic Agents; Male; Maze Learning; Mice; Mice, Inbred BALB C; Niemann-Pick Disease, Type C; Organ Size; Pregnanolone

2016
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.
    Orphanet journal of rare diseases, 2017, 02-02, Volume: 12, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Biomarkers; Brain; Case-Control Studies; Child; Child, Preschool; Glycoside Hydrolase Inhibitors; Humans; Middle Aged; Neuroimaging; Niemann-Pick Disease, Type C; Young Adult

2017
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.
    Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2

    Topics: 1-Deoxynojirimycin; Brazil; Child; Child Behavior; Child Development; Disability Evaluation; Enzyme Inhibitors; Female; Glucosyltransferases; Humans; Magnetic Resonance Imaging; Niemann-Pick Disease, Type C; Recovery of Function; Severity of Illness Index; Time Factors; Treatment Outcome

2008
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
    Molecular genetics and metabolism, 2009, Volume: 96, Issue:2

    Topics: 1-Deoxynojirimycin; Adult; Brain; Choline; Cohort Studies; Creatine; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Niemann-Pick Disease, Type C; Treatment Outcome

2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.
    Molecular genetics and metabolism, 2009, Volume: 98, Issue:3

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Cohort Studies; Enzyme Inhibitors; Female; Humans; Male; Niemann-Pick Disease, Type C; Retrospective Studies; Treatment Outcome

2009
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.
    PloS one, 2009, Sep-11, Volume: 4, Issue:9

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Animals; beta-Cyclodextrins; Cholesterol; Cyclodextrins; Disease Models, Animal; Disease Progression; Drug Synergism; Enzyme Inhibitors; Glycosphingolipids; Mice; Mice, Transgenic; Neurons; Niemann-Pick Disease, Type C; Pregnanolone; Treatment Outcome

2009
Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:3

    Topics: 1-Deoxynojirimycin; Adult; Anisotropy; Diffusion Tensor Imaging; Enzyme Inhibitors; Eye Movements; Humans; Male; Niemann-Pick Disease, Type C; Treatment Outcome; Young Adult

2010
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:4

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Age Factors; Child; Child, Preschool; Cognition; Female; Humans; Male; Nervous System Diseases; Niemann-Pick Disease, Type C

2010
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2011, Volume: 15, Issue:1

    Topics: 1-Deoxynojirimycin; Cataplexy; Child; Enzyme Inhibitors; Humans; Male; Niemann-Pick Disease, Type C

2011
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
[Niemann Pick type C disease].
    Kinderkrankenschwester : Organ der Sektion Kinderkrankenpflege, 2010, Volume: 29, Issue:9

    Topics: 1-Deoxynojirimycin; Brain; Child; Child, Preschool; Chromosome Aberrations; Combined Modality Therapy; Developmental Disabilities; Diagnosis, Differential; Disability Evaluation; Disease Progression; Enzyme Inhibitors; Female; Genes, Recessive; Genetic Testing; Humans; Infant, Newborn; Magnetic Resonance Imaging; Niemann-Pick Disease, Type C; Parenting

2010
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study.
    Neurology, 2011, Jan-11, Volume: 76, Issue:2

    Topics: 1-Deoxynojirimycin; Adult; Brain; Case-Control Studies; Cross-Sectional Studies; Diffusion Tensor Imaging; Enzyme Inhibitors; Female; Follow-Up Studies; Humans; Male; Niemann-Pick Disease, Type C; Treatment Outcome

2011
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
    American journal of medical genetics. Part A, 2011, Volume: 155A, Issue:3

    Topics: 1-Deoxynojirimycin; Child; Deglutition; Deglutition Disorders; Demography; Enzyme Inhibitors; Female; Fluoroscopy; Humans; Infant; Male; Niemann-Pick Disease, Type C; Video Recording

2011
[Report of attendance at the Parseghian Scientific Conference for Niemann-Pick Type C (NP-C) Research, South Bend, Indiana: in search of new therapeutic possibilities for a very rare illness].
    Kinderkrankenschwester : Organ der Sektion Kinderkrankenpflege, 2011, Volume: 30, Issue:10

    Topics: 1-Deoxynojirimycin; 2-Hydroxypropyl-beta-cyclodextrin; Adolescent; Animals; beta-Cyclodextrins; Child; Disease Models, Animal; Diseases in Twins; Drugs, Investigational; Histone Deacetylases; Humans; Infusions, Intravenous; Injections, Spinal; Mice; Niemann-Pick Disease, Type C; Research; United States; United States Food and Drug Administration

2011
Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.
    PloS one, 2011, Volume: 6, Issue:12

    Topics: 1-Deoxynojirimycin; Anesthetics; Animals; Chromatography, High Pressure Liquid; Chromatography, Liquid; Cornea; Cyclodextrins; Disease Progression; Drug Therapy, Combination; Enzyme Inhibitors; Genotype; Intracellular Signaling Peptides and Proteins; Lysosomes; Mass Spectrometry; Mice; Mice, Knockout; Microscopy, Confocal; Models, Biological; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Pregnanolone; Proteins

2011
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:1

    Topics: 1-Deoxynojirimycin; Child; Child, Preschool; Cognition; Deglutition; Disease Progression; Drug Administration Schedule; Female; Humans; Male; Nervous System Diseases; Niemann-Pick Disease, Type C; Time; Treatment Outcome

2013
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.
    Journal of neuropathology and experimental neurology, 2012, Volume: 71, Issue:5

    Topics: 1-Deoxynojirimycin; Animals; Antigens, CD; Area Under Curve; Brain; Case-Control Studies; Cat Diseases; Cats; Cell Survival; Cholesterol; Enzyme Inhibitors; Follow-Up Studies; Gangliosidoses, GM2; Microglia; Niemann-Pick Disease, Type C; Phagocytosis; Phenotype; Postmortem Changes; Purkinje Cells; Reactive Oxygen Species; Sphingomyelins; Sphingosine; Time Factors

2012
Early miglustat therapy in infantile Niemann-Pick disease type C.
    Pediatric neurology, 2012, Volume: 47, Issue:1

    Topics: 1-Deoxynojirimycin; Carrier Proteins; Child; DNA Mutational Analysis; Enzyme Inhibitors; Female; Humans; Intracellular Signaling Peptides and Proteins; Longitudinal Studies; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2012
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
    Gene, 2012, Sep-10, Volume: 506, Issue:1

    Topics: 1-Deoxynojirimycin; Adolescent; Carrier Proteins; Child; Child, Preschool; Developmental Disabilities; Disability Evaluation; Disease Progression; Enzyme Inhibitors; Female; Glucosyltransferases; Humans; Infant; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Language Development Disorders; Male; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2012
Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2012, Volume: 30, Issue:6

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Antioxidants; Catalase; Child; Enzyme Inhibitors; Erythrocytes; Female; Fibroblasts; Glutathione; Glutathione Peroxidase; Humans; Infant; Longitudinal Studies; Male; Niemann-Pick Disease, Type C; Oxidative Stress; Plasma; Protein Carbonylation; Statistics, Nonparametric; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Young Adult

2012
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
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.
    Journal of child neurology, 2013, Volume: 28, Issue:12

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Child, Preschool; Enzyme Inhibitors; Female; Humans; Infant; Iran; Male; Nervous System Diseases; Niemann-Pick Disease, Type C; Retrospective Studies; Treatment Outcome; Young Adult

2013
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
    Orphanet journal of rare diseases, 2013, Jan-16, Volume: 8

    Topics: 1-Deoxynojirimycin; Adolescent; Age of Onset; Child; Child, Preschool; Disabled Persons; Enzyme Inhibitors; Female; Humans; Infant; Male; Mutation; Niemann-Pick Disease, Type C; Prospective Studies; Registries

2013
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    Topics: 1-Deoxynojirimycin; Adolescent; Child; Cognition; Deglutition; Enzyme Inhibitors; Glucosyltransferases; Humans; Interpersonal Relations; Niemann-Pick Disease, Type C; Recovery of Function; Severity of Illness Index; Time Factors; Treatment Outcome; Verbal Behavior; Walking

2007
[Niemann-Pick diseases in adults].
    La Revue de medecine interne, 2007, Volume: 28 Suppl 4

    Topics: 1-Deoxynojirimycin; Adult; Carrier Proteins; Enzyme Inhibitors; Glycoproteins; Glycoside Hydrolase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Middle Aged; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type B; Niemann-Pick Disease, Type C; Sphingomyelin Phosphodiesterase; Vesicular Transport Proteins

2007