Compounds > 1-deoxynojirimycin
Page last updated: 2024-08-23

1-deoxynojirimycin and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

1-deoxynojirimycin has been researched along with Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia in 93 studies

Research

Studies (93)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's8 (8.60)29.6817
2010's70 (75.27)24.3611
2020's15 (16.13)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
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
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 1-deoxynojirimycin 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 1-deoxynojirimycin 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

75 other study(ies) available for 1-deoxynojirimycin 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
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
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