miglustat (BioDeep_00000614952)
代谢物信息卡片
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
化学式: C10H21NO4 (219.1471)
中文名称: 麦格司他
谱图信息:
最多检出来源 () 0%
分子结构信息
SMILES: CCCCN1CC(C(C(C1CO)O)O)O
InChI: InChI=1S/C10H21NO4/c1-2-3-4-11-5-8(13)10(15)9(14)7(11)6-12/h7-10,12-15H,2-6H2,1H3/t7-,8+,9-,10-/m1/s1
描述信息
A - Alimentary tract and metabolism > A16 - Other alimentary tract and metabolism products > A16A - Other alimentary tract and metabolism products > A16AX - Various alimentary tract and metabolism products
D000890 - Anti-Infective Agents > D000998 - Antiviral Agents > D044966 - Anti-Retroviral Agents
D007004 - Hypoglycemic Agents > D065089 - Glycoside Hydrolase Inhibitors
C471 - Enzyme Inhibitor > C2846 - Glucosidase Inhibitor
D004791 - Enzyme Inhibitors
同义名列表
数据库引用编号
8 个数据库交叉引用编号
- ChEBI: CHEBI:50381
- KEGGdrug: D05032
- PubChem: 51634
- Metlin: METLIN85381
- DrugBank: DB00419
- ChEMBL: CHEMBL1029
- CAS: 134282-77-2
- CAS: 72599-27-0
分类词条
相关代谢途径
Reactome(0)
BioCyc(0)
PlantCyc(0)
代谢反应
0 个相关的代谢反应过程信息。
Reactome(0)
BioCyc(0)
WikiPathways(0)
Plant Reactome(0)
INOH(0)
PlantCyc(0)
COVID-19 Disease Map(0)
PathBank(0)
PharmGKB(0)
0 个相关的物种来源信息
在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：
- PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
- NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
- Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
- Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。
点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。
| 亚细胞结构定位 | 关联基因列表 |
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文献列表
- Saniye Karabudak, Vildan Güzel, Beril Güler, Bülent Uyanık, Azize Esra Gürsoy. A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach.
Journal of clinical lipidology.
2023 Dec; ?(?):. doi:
10.1016/j.jacl.2023.11.015. [PMID: 38172008] - Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T Vanier, Bénédicte Héron. 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; 18(1):204. doi:
10.1186/s13023-023-02804-4. [PMID: 37480097] - Khalifa El Malki, Pia Wehling, Francesca Alt, Roger Sandhoff, Sebastian Zahnreich, Arsenij Ustjanzew, Carolin Wilzius, Marc A Brockmann, Arthur Wingerter, Alexandra Russo, Olaf Beck, Clemens Sommer, Malte Ottenhausen, Katrin B M Frauenknecht, Claudia Paret, Jörg Faber. Glucosylceramide Synthase Inhibitors Induce Ceramide Accumulation and Sensitize H3K27 Mutant Diffuse Midline Glioma to Irradiation.
International journal of molecular sciences.
2023 Jun; 24(12):. doi:
10.3390/ijms24129905. [PMID: 37373053] - Veronica Antipova, Lisa-Marie Steinhoff, Carsten Holzmann, Arndt Rolfs, Carlos Junior Hempel, Martin Witt, Andreas Wree. Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches.
International journal of molecular sciences.
2022 Dec; 24(1):. doi:
10.3390/ijms24010573. [PMID: 36614015] - Laura López de Frutos, Francisco Almeida, Jessica Murillo-Saich, Vasco A Conceição, Monica Guma, Oswald Queheberger, Pilar Giraldo, Gabriel Miltenberger-Miltenyi. Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease.
International journal of molecular sciences.
2022 Sep; 23(18):. doi:
10.3390/ijms231810387. [PMID: 36142296] - Tatiane G Hammerschmidt, Bruna Donida, Jéssica L Faverzani, Alana P Moura, Bianca G Dos Reis, Andryele Z Machado, Rejane G Kessler, Fernanda M Sebastião, Luiza S Reinhardt, Dinara J Moura, Carmen R Vargas. 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; 416(2):113175. doi:
10.1016/j.yexcr.2022.113175. [PMID: 35487270] - Ichiro Misumi, Zhucui Li, Lu Sun, Anshuman Das, Tomoyuki Shiota, John Cullen, Qibin Zhang, Jason K Whitmire, Stanley M Lemon. Iminosugar Glucosidase Inhibitors Reduce Hepatic Inflammation in Hepatitis A Virus-Infected Ifnar1-/- Mice.
Journal of virology.
2021 05; 95(11):e0005821. doi:
10.1128/jvi.00058-21. [PMID: 33692213] - Sreejith Rajasekharan, Rafaela Milan Bonotto, Lais Nascimento Alves, Yvette Kazungu, Monica Poggianella, Pamela Martinez-Orellana, Natasa Skoko, Sulena Polez, Alessandro Marcello. Inhibitors of Protein Glycosylation Are Active against the Coronavirus Severe Acute Respiratory Syndrome Coronavirus SARS-CoV-2.
Viruses.
2021 04; 13(5):. doi:
10.3390/v13050808. [PMID: 33946304] - Anne Gläser, Franziska Hammerl, Markus H Gräler, Sina M Coldewey, Christin Völkner, Moritz J Frech, Fan Yang, Jiankai Luo, Eric Tönnies, Oliver von Bohlen Und Halbach, Nicola Brandt, Diana Heimes, Anna-Maria Neßlauer, Georg Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Arndt Rolfs, Andreas Wree, Martin Witt, Anja Ursula Bräuer. Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
International journal of molecular sciences.
2020 Jun; 21(12):. doi:
10.3390/ijms21124502. [PMID: 32599915] - María de la Concepción Fournier Del Castillo, Silvia Cámara Barrio, Borja Esteso Orduña, Izaskun Basterra Jiménez, Laura López Marín, Verónica Cantarín Extremera, Luis González Gutiérrez-Solana. Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case.
Neurodegenerative disease management.
2020 04; 10(2):73-80. doi:
10.2217/nmt-2019-0022. [PMID: 32351165] - Graham Brogden, Hadeel Shammas, Friederike Walters, Katia Maalouf, Anibh M Das, Hassan Y Naim, Sandra Rizk. 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; 21(6):. doi:
10.3390/ijms21062101. [PMID: 32204338] - Sanzana Hoque, Yuki Kondo, Nodoka Sakata, Yusei Yamada, Madoka Fukaura, Taishi Higashi, Keiichi Motoyama, Hidetoshi Arima, Katsumi Higaki, Akio Hayashi, Takaki Komiya, Yoichi Ishitsuka, Tetsumi Irie. Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells.
International journal of molecular sciences.
2020 Jan; 21(3):. doi:
10.3390/ijms21030898. [PMID: 32019132] - Guang-Yi Dai, Jian Yin, Kai-En Li, Ding-Kang Chen, Zhe Liu, Fang-Cheng Bi, Chan Rong, Nan Yao. The Arabidopsis AtGCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides.
The Journal of biological chemistry.
2020 01; 295(3):717-728. doi:
10.1074/jbc.ra119.011274. [PMID: 31819005] - Maria Cristina Costanzo, Antonio Gennaro Nicotera, Mirella Vinci, Aurelio Vitello, Agata Fiumara, Francesco Calì, Sebastiano Antonino Musumeci. Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset.
Journal of genetics.
2020; 99(?):. doi:
. [PMID: 32482919] - Rodolfo Tonin, Anna Caciotti, Elena Procopio, Rita Fischetto, Federica Deodato, Maria Margherita Mancardi, Maja Di Rocco, Anna Ardissone, Alessandro Salviati, Antonio Marangi, Pietro Strisciuglio, Giusi Mangone, Arianna Casini, Silvia Ricci, Agata Fiumara, Rossella Parini, Francesco Saverio Pavone, Renzo Guerrini, Martino Calamai, Amelia Morrone. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Scientific reports.
2019 11; 9(1):17684. doi:
10.1038/s41598-019-53995-5. [PMID: 31776384] - Meher Lad, Rhys H Thomas, Kirstie Anderson, Timothy D Griffiths. Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.
Practical neurology.
2019 Oct; 19(5):420-423. doi:
10.1136/practneurol-2019-002236. [PMID: 31243140] - Anna-Maria Neßlauer, Anne Gläser, Markus Gräler, Robby Engelmann, Brigitte Müller-Hilke, Marcus Frank, Christine Burstein, Arndt Rolfs, John Neidhardt, Andreas Wree, Martin Witt, Anja U Bräuer. 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; 18(1):146. doi:
10.1186/s12944-019-1088-2. [PMID: 31248418] - Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A Kolb. 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; 14(1):32. doi:
10.1186/s13023-019-0996-6. [PMID: 30732631] - Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T Vanier, Bénédicte Héron. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Orphanet journal of rare diseases.
2018 10; 13(1):175. doi:
10.1186/s13023-018-0913-4. [PMID: 30285904] - Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli. 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 Jun; 39(6):1015-1019. doi:
10.1007/s10072-018-3314-5. [PMID: 29536386] - Lynn Ebner, Anne Gläser, Anja Bräuer, Martin Witt, Andreas Wree, Arndt Rolfs, Marcus Frank, Brigitte Vollmar, Angela Kuhla. Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.
International journal of molecular sciences.
2018 Mar; 19(4):. doi:
10.3390/ijms19040972. [PMID: 29587349] - Pilar Giraldo, Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Koldo Atutxa, Antonio Acedo, Abelardo Barez, Margarita Blanes, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Rafael Franco, Cristina Gil-Cortes, Vicente Giner, Angela Ibañez, Paz Latre, Ines Loyola, Elisa Luño, Roberto Hernández-Martin, Blanca Medrano-Engay, José Puerta, Inmaculada Roig, Javier de la Serna, Olga Salamero, Lucia Villalón, Miguel Pocovi. Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.
Blood cells, molecules & diseases.
2018 02; 68(?):173-179. doi:
10.1016/j.bcmd.2016.10.017. [PMID: 27836529] - Miho Usui, Akihiko Miyauchi, Yuko Nakano, Sachie Nakamura, Eriko Jimbo, Shinji Itamura, Kaori Adachi, Eiji Nanba, Aya Narita, Takanori Yamagata, Hitoshi Osaka. Miglustat therapy in a case of early-infantile Niemann-Pick type C.
Brain & development.
2017 Nov; 39(10):886-890. doi:
10.1016/j.braindev.2017.05.006. [PMID: 28587793] - Lauren C Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L Wang, Kostantin Dobrenis, Steven U Walkley. N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Neurobiology of disease.
2017 Sep; 105(?):257-270. doi:
10.1016/j.nbd.2017.06.003. [PMID: 28610891] - Fay Probert, Victor Ruiz-Rodado, Danielle Te Vruchte, Elena-Raluca Nicoli, Tim D W Claridge, Christopher A Wassif, Nicole Farhat, Forbes D Porter, Frances M Platt, Martin Grootveld. NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.
Scientific reports.
2017 07; 7(1):6320. doi:
10.1038/s41598-017-06264-2. [PMID: 28740230] - Anja Meyer, Andreas Wree, René Günther, Carsten Holzmann, Oliver Schmitt, Arndt Rolfs, Martin Witt. Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1.
International journal of molecular sciences.
2017 Apr; 18(4):. doi:
10.3390/ijms18040777. [PMID: 28383485] - Julia Ma, Shuo Wu, Xuexiang Zhang, Fang Guo, Katherine Yang, Jia Guo, Qing Su, Huagang Lu, Patrick Lam, Yuhuan Li, Zhengyin Yan, William Kinney, Ju-Tao Guo, Timothy M Block, Jinhong Chang, Yanming Du. Ester Prodrugs of IHVR-19029 with Enhanced Oral Exposure and Prevention of Gastrointestinal Glucosidase Interaction.
ACS medicinal chemistry letters.
2017 Feb; 8(2):157-162. doi:
10.1021/acsmedchemlett.6b00332. [PMID: 28197304] - Ferdinando Ceravolo, Michele Grisolia, Simona Sestito, Francesca Falvo, Maria Teresa Moricca, Daniela Concolino. Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.
Journal of medical case reports.
2017 Jan; 11(1):19. doi:
10.1186/s13256-016-1147-5. [PMID: 28103924] - Gaetano Giuffrida, Rita Lombardo, Ernesto Di Francesco, Laura Parrinello, Francesco Di Raimondo, Agata Fiumara. Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.
Journal of medical case reports.
2016 Nov; 10(1):315. doi:
10.1186/s13256-016-1060-y. [PMID: 27821156] - Jean-Marie Cuisset, S Sukno, A Trauffler, P Latour, D Dobbelaere, L Michaud, L Vallée. 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; 10(1):241. doi:
10.1186/s13256-016-1038-9. [PMID: 27599728] - Saki Sultana, Nhu Y Truong, Douglas B Vieira, Jasper G D Wigger, A Michael Forrester, Chansey J Veinotte, Jason N Berman, Aarnoud C van der Spoel. Characterization of the Zebrafish Homolog of β-Glucosidase 2: A Target of the Drug Miglustat.
Zebrafish.
2016 06; 13(3):177-87. doi:
10.1089/zeb.2015.1152. [PMID: 26909767] - Bouwien E Smid, Maria J Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S Overkleeft, Carla E Hollak, Johannes M Aerts. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
Orphanet journal of rare diseases.
2016 Mar; 11(?):28. doi:
10.1186/s13023-016-0413-3. [PMID: 27008851] - Fay Probert, Victor Ruiz-Rodado, Xiaoyu Zhang, Danielle te Vruchte, Tim D W Claridge, Mark Edgar, Anna Zonato Tocchio, Robin H Lachmann, Frances M Platt, Martin Grootveld. 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; 117(?):276-88. doi:
10.1016/j.jpba.2015.08.011. [PMID: 26397207] - Larry A Abel, Mark Walterfang, Matthew J Stainer, Elizabeth A Bowman, Dennis Velakoulis. Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.
Orphanet journal of rare diseases.
2015 Dec; 10(?):160. doi:
10.1186/s13023-015-0377-8. [PMID: 26691656] - Magalí C Girard, Flavia Sacerdoti, Fulton P Rivera, Horacio A Repetto, Cristina Ibarra, María M Amaral. Prevention of renal damage caused by Shiga toxin type 2: Action of Miglustat on human endothelial and epithelial cells.
Toxicon : official journal of the International Society on Toxinology.
2015 Oct; 105(?):27-33. doi:
10.1016/j.toxicon.2015.08.021. [PMID: 26335361] - Elizabeth A Bowman, Mark Walterfang, Larry Abel, Patricia Desmond, Michael Fahey, Dennis Velakoulis. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat.
Journal of neurology.
2015 Sep; 262(9):2106-14. doi:
10.1007/s00415-015-7819-z. [PMID: 26092521] - Adel Ersek, Ke Xu, Aristotelis Antonopoulos, Terry D Butters, Ana Espirito Santo, Youridies Vattakuzhi, Lynn M Williams, Katerina Goudevenou, Lynett Danks, Andrew Freidin, Emmanouil Spanoudakis, Simon Parry, Maria Papaioannou, Evdoxia Hatjiharissi, Aristeidis Chaidos, Dominic S Alonzi, Gabriele Twigg, Ming Hu, Raymond A Dwek, Stuart M Haslam, Irene Roberts, Anne Dell, Amin Rahemtulla, Nicole J Horwood, Anastasios Karadimitris. Glycosphingolipid synthesis inhibition limits osteoclast activation and myeloma bone disease.
The Journal of clinical investigation.
2015 Jun; 125(6):2279-92. doi:
10.1172/jci59987. [PMID: 25915583] - Elad Shemesh, Laura Deroma, Bruno Bembi, Patrick Deegan, Carla Hollak, Neal J Weinreb, Timothy M Cox. Enzyme replacement and substrate reduction therapy for Gaucher disease.
The Cochrane database of systematic reviews.
2015 Mar; ?(3):CD010324. doi:
10.1002/14651858.cd010324.pub2. [PMID: 25812601] - Mahdi Amiri, Hassan Y Naim. Long term differential consequences of miglustat therapy on intestinal disaccharidases.
Journal of inherited metabolic disease.
2014 Nov; 37(6):929-37. doi:
10.1007/s10545-014-9725-4. [PMID: 24863482] - Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt, Bruno Bembi. Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.
Orphanet journal of rare diseases.
2014 Sep; 9(?):143. doi:
10.1186/s13023-014-0143-3. [PMID: 25227739] - Magali Savignac, Marina Simon, Anissa Edir, Laure Guibbal, Alain Hovnanian. SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat.
The Journal of investigative dermatology.
2014 Jul; 134(7):1961-1970. doi:
10.1038/jid.2014.8. [PMID: 24390139] - Theodora Mauro. Endoplasmic reticulum calcium, stress, and cell-to-cell adhesion.
The Journal of investigative dermatology.
2014 Jul; 134(7):1800-1801. doi:
10.1038/jid.2014.97. [PMID: 24924761] - Alexis Hofherr, Claudius Wagner, Sorin Fedeles, Stefan Somlo, Michael Köttgen. N-glycosylation determines the abundance of the transient receptor potential channel TRPP2.
The Journal of biological chemistry.
2014 May; 289(21):14854-67. doi:
10.1074/jbc.m114.562264. [PMID: 24719335] - Ya Hui Hung, Noel G Faux, David W Killilea, Nicole Yanjanin, Sally Firnkes, Irene Volitakis, George Ganio, Mark Walterfang, Caroline Hastings, Forbes D Porter, Daniel S Ory, Ashley I Bush. Altered transition metal homeostasis in Niemann-Pick disease, type C1.
Metallomics : integrated biometal science.
2014 Mar; 6(3):542-53. doi:
10.1039/c3mt00308f. [PMID: 24343124] - Georgia McDonald, Shantal Deepak, Laura Miguel, Cleo J Hall, David A Isenberg, Anthony I Magee, Terry Butters, Elizabeth C Jury. Normalizing glycosphingolipids restores function in CD4+ T cells from lupus patients.
The Journal of clinical investigation.
2014 Feb; 124(2):712-24. doi:
10.1172/jci69571. [PMID: 24463447] - V S Berezenko, M B Dyba. [Niemann-Pick disease--a rare disease in children's hepatology (a clinical case)].
Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology.
2014; ?(8):101-5. doi:
NULL. [PMID: 25911921] - Katherine A Lyseng-Williamson. Miglustat: a review of its use in Niemann-Pick disease type C.
Drugs.
2014 Jan; 74(1):61-74. doi:
10.1007/s40265-013-0164-6. [PMID: 24338084] - Stephanie M Cologna, Celine V M Cluzeau, Nicole M Yanjanin, Paul S Blank, Michelle K Dail, Stephan Siebel, Cynthia L Toth, Christopher A Wassif, Andrew P Lieberman, Forbes D Porter. Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
Journal of inherited metabolic disease.
2014 Jan; 37(1):83-92. doi:
10.1007/s10545-013-9610-6. [PMID: 23653225] - Katalin Szakszon, István Szegedi, Agnes Magyar, Eva Oláh, Mónika Andrejkovics, Petra Balla, András Lengyel, Ervin Berényi, István Balogh. 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 Jan; 18(1):75-8. doi:
10.1016/j.ejpn.2013.08.002. [PMID: 24119781] - Ammar Kheder, Camilla Scott, Simon Olpin, Marios Hadjivassiliou. Niemann-Pick type C: a potentially treatable disorder?.
Practical neurology.
2013 Dec; 13(6):382-5. doi:
10.1136/practneurol-2013-000525. [PMID: 23906593] - Martin Fan, Rohini Sidhu, Hideji Fujiwara, Brett Tortelli, Jessie Zhang, Cristin Davidson, Steven U Walkley, Jessica H Bagel, Charles Vite, Nicole M Yanjanin, Forbes D Porter, Jean E Schaffer, Daniel S Ory. Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
Journal of lipid research.
2013 Oct; 54(10):2800-14. doi:
10.1194/jlr.m040618. [PMID: 23881911] - David J Kuter, Atul Mehta, Carla E M Hollak, Pilar Giraldo, Derralynn Hughes, Nadia Belmatoug, Monika Brand, Audrey Muller, Berthold Schaaf, Ruben Giorgino, Ari Zimran. Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.
Blood cells, molecules & diseases.
2013 Aug; 51(2):116-24. doi:
10.1016/j.bcmd.2013.04.005. [PMID: 23683771] - Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C Patterson. 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; 7(?):76. doi:
10.1186/1750-1172-7-76. [PMID: 23039766] - Graziela S Ribas, Ricardo Pires, Janice Carneiro Coelho, Daiane Rodrigues, Caroline Paula Mescka, Camila S Vanzin, Giovana B Biancini, Giovanna Negretto, Carlos A Y Wayhs, Moacir Wajner, Carmen R Vargas. 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 Oct; 30(6):439-44. doi:
10.1016/j.ijdevneu.2012.07.002. [PMID: 22820346] - Marc C Patterson, Christian J Hendriksz, Mark Walterfang, Frederic Sedel, Marie T Vanier, Frits Wijburg. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Molecular genetics and metabolism.
2012 Jul; 106(3):330-44. doi:
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Orphanet journal of rare diseases.
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Journal of medicinal chemistry.
2012 May; 55(9):4322-35. doi:
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Journal of neuropathology and experimental neurology.
2012 May; 71(5):434-48. doi:
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Journal of pharmaceutical and biomedical analysis.
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BMC biochemistry.
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