{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:21:43Z","timestamp":1791397303083,"version":"4.3.3"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T00:00:00Z","timestamp":1386806400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Drugs"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1007\/s40265-013-0164-6","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T09:17:22Z","timestamp":1386753442000},"page":"61-74","source":"Crossref","is-referenced-by-count":108,"title":["Miglustat: A Review of Its Use in Niemann-Pick Disease Type C"],"prefix":"10.1007","volume":"74","author":[{"given":"Katherine A.","family":"Lyseng-Williamson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,12,12]]},"reference":[{"issue":"3","key":"164_CR1","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2012.03.012","volume":"106","author":"MC Patterson","year":"2012","unstructured":"Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330\u201344.","journal-title":"Mol Genet Metab."},{"key":"164_CR2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","volume":"5","author":"MT Vanier","year":"2010","unstructured":"Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.","journal-title":"Orphanet J Rare Dis."},{"issue":"4","key":"164_CR3","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/humu.10255","volume":"22","author":"WD Park","year":"2003","unstructured":"Park WD, O\u2019Brien JF, Lundquist PA, et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat. 2003;22(4):313\u201325.","journal-title":"Hum Mutat."},{"issue":"3","key":"164_CR4","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1399-0004.2005.00490.x","volume":"68","author":"EM Fernandez-Valero","year":"2005","unstructured":"Fernandez-Valero EM, Ballart A, Iturriaga C, et al. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype\u2013phenotype correlations. Clin Genet. 2005;68(3):245\u201354.","journal-title":"Clin Genet."},{"issue":"1","key":"164_CR5","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1399-0004.2010.01504.x","volume":"80","author":"J Mac\u00edas-Vidal","year":"2011","unstructured":"Mac\u00edas-Vidal J, Rodr\u00edguez-Pascau L, S\u00e1nchez-Oll\u00e9 G, et al. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet. 2011;80(1):39\u201349.","journal-title":"Clin Genet."},{"issue":"3","key":"164_CR6","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s10048-009-0175-3","volume":"10","author":"T Fancello","year":"2009","unstructured":"Fancello T, Dardis A, Rosano C, et al. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics. 2009;10(3):229\u201339.","journal-title":"Neurogenetics."},{"key":"164_CR7","doi-asserted-by":"crossref","unstructured":"Mavridou I, Cozar M, Douzgou S, et al. Niemann Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Clin Genet. doi: 10.1111\/cge.12200 [Epub 22 May 2013].","DOI":"10.1111\/cge.12200"},{"issue":"21","key":"164_CR8","doi-asserted-by":"crossref","first-page":"4349","DOI":"10.1093\/hmg\/ddt284","volume":"22","author":"P Bauer","year":"2013","unstructured":"Bauer P, Balding DJ, Kl\u00fcnemann HH, et al. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013;22(21):4349\u201356.","journal-title":"Hum Mol Genet."},{"issue":"5","key":"164_CR9","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1083\/jcb.201208152","volume":"199","author":"FM Platt","year":"2012","unstructured":"Platt FM, Boland B, van der Spoel AC. Lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012;199(5):723\u201334.","journal-title":"J Cell Biol."},{"issue":"3","key":"164_CR10","doi-asserted-by":"crossref","first-page":"387","DOI":"10.2217\/clp.10.19","volume":"5","author":"M Madra","year":"2010","unstructured":"Madra M, Sturley SL. Niemann-Pick type C pathogenesis and treatment: from statins to sugars. Clin Lipidol. 2010;5(3):387\u201395.","journal-title":"Clin Lipidol."},{"issue":"5","key":"164_CR11","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1111\/j.1471-4159.2010.06976.x","volume":"116","author":"AI Rosenbaum","year":"2011","unstructured":"Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem. 2011;116(5):789\u201395.","journal-title":"J Neurochem."},{"issue":"1","key":"164_CR12","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10545-006-0384-7","volume":"30","author":"J Imrie","year":"2007","unstructured":"Imrie J, Dasgupta S, Besley GTN, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis. 2007;30(1):51\u20139.","journal-title":"J Inherit Metab Dis."},{"issue":"1","key":"164_CR13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","volume":"249","author":"C Iturriaga","year":"2006","unstructured":"Iturriaga C, Pineda M, Fern\u00e1ndez-Valero EM, et al. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006;249(1):1\u20136.","journal-title":"J Neurol Sci."},{"key":"164_CR14","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-8-12","volume":"8","author":"MC Patterson","year":"2013","unstructured":"Patterson MC, Mengel E, Wijburg FA, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. [Erratum appears in Orphanet J Rare Dis. 2013;8:73]. Orphanet J Rare Dis. 2013;8:12.","journal-title":"Orphanet J Rare Dis."},{"issue":"3","key":"164_CR15","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ymgme.2009.06.009","volume":"98","author":"JE Wraith","year":"2009","unstructured":"Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98(3):250\u20134.","journal-title":"Mol Genet Metab."},{"issue":"Pt 1","key":"164_CR16","first-page":"120","volume":"130","author":"M Sevin","year":"2007","unstructured":"Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130(Pt 1):120\u201333.","journal-title":"Brain."},{"issue":"1","key":"164_CR17","doi-asserted-by":"crossref","first-page":"877","DOI":"10.2147\/TCRM.S5777","volume":"5","author":"JE Wraith","year":"2009","unstructured":"Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag. 2009;5(1):877\u201387.","journal-title":"Ther Clin Risk Manag."},{"key":"164_CR18","doi-asserted-by":"crossref","unstructured":"Wraith JE, Sedel F, Pineda M, et al. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis. doi: 10.1007\/s10545-013-9626-y [Epub 21 Jun 2013].","DOI":"10.1007\/s10545-013-9626-y"},{"issue":"7","key":"164_CR19","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","volume":"52","author":"X Jiang","year":"2011","unstructured":"Jiang X, Sidhu R, Porter FD, et al. A sensitive and specific LC-MS\/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res. 2011;52(7):1435\u201345.","journal-title":"J Lipid Res."},{"key":"164_CR20","doi-asserted-by":"crossref","unstructured":"Porter FD, Scherrer DE, Lanier MH, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med. 2010;2(56):56ra81.","DOI":"10.1126\/scitranslmed.3001417"},{"issue":"2 Suppl","key":"164_CR21","first-page":"S270","volume":"36","author":"G Polo","year":"2013","unstructured":"Polo G, Burlina AP, Giordano L, et al. Early diagnosis of Niemann-Pick C type 2 (NPC-2) disease by oxysterols measurement [abstract no. P-603]. J Inherit Metab Dis. 2013;36(2 Suppl):S270.","journal-title":"J Inherit Metab Dis."},{"issue":"2 Suppl","key":"164_CR22","first-page":"S276","volume":"36","author":"J Reunert","year":"2013","unstructured":"Reunert J, Kannenberg F, Fobker M, et al. Niemann Pick type C: improved diagnostics by oxysterol measurement [abstract no. P-625]. J Inherit Metab Dis. 2013;36(2 Suppl):S276.","journal-title":"J Inherit Metab Dis."},{"key":"164_CR23","unstructured":"Zavesca 100\u00a0mg hard capsules: summary of product characteristics. London: European Medicines Agency; 2013."},{"issue":"3","key":"164_CR24","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1517\/13543784.10.3.455","volume":"10","author":"RH Lachmann","year":"2001","unstructured":"Lachmann RH, Platt FM. Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin Investig Drugs. 2001;10(3):455\u201366.","journal-title":"Expert Opin Investig Drugs."},{"issue":"43","key":"164_CR25","doi-asserted-by":"crossref","first-page":"27108","DOI":"10.1016\/S0021-9258(18)47132-3","volume":"269","author":"FM Platt","year":"1994","unstructured":"Platt FM, Neises GR, Karlsson GB, et al. N-Butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligiosaccharide processing. J Biol Chem. 1994;269(43):27108\u201314.","journal-title":"J Biol Chem."},{"issue":"11","key":"164_CR26","doi-asserted-by":"crossref","first-page":"8362","DOI":"10.1016\/S0021-9258(17)37202-2","volume":"269","author":"FM Platt","year":"1994","unstructured":"Platt FM, Neises GR, Dwek RA, et al. N-Butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994;269(11):8362\u20135.","journal-title":"J Biol Chem."},{"issue":"16","key":"164_CR27","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","volume":"11","author":"M Zervas","year":"2001","unstructured":"Zervas M, Somers KL, Thrall MA, et al. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol. 2001;11(16):1283\u20137.","journal-title":"Curr Biol."},{"issue":"25","key":"164_CR28","doi-asserted-by":"crossref","first-page":"26167","DOI":"10.1074\/jbc.M311591200","volume":"279","author":"D Vruchte te","year":"2004","unstructured":"te Vruchte D, Lloyd-Evans E, Veldman RJ, et al. Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem. 2004;279(25):26167\u201375.","journal-title":"J Biol Chem."},{"issue":"3","key":"164_CR29","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.nbd.2004.05.002","volume":"16","author":"RH Lachmann","year":"2004","unstructured":"Lachmann RH, Te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis. 2004;16(3):654\u20138.","journal-title":"Neurobiol Dis."},{"issue":"Suppl 3","key":"164_CR30","first-page":"S193","volume":"34","author":"K Maalouf","year":"2011","unstructured":"Maalouf K, Das AM, Naim HY. M. Niemann-Pick type C: restoration of lipid rafts and other biochemical anomalies by N-butyl-deoxinojirimycin [abstract no. P-347]. J Inherit Metab Dis. 2011;34(Suppl 3):S193.","journal-title":"J Inherit Metab Dis."},{"issue":"6","key":"164_CR31","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.ijdevneu.2012.07.002","volume":"30","author":"GS Ribas","year":"2012","unstructured":"Ribas GS, Pires R, Coelho JC, et al. Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy. Int J Dev Neurosci. 2012;30(6):439\u201344.","journal-title":"Int J Dev Neurosci."},{"issue":"2\u20133","key":"164_CR32","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ymgme.2010.06.018","volume":"101","author":"R Fu","year":"2010","unstructured":"Fu R, Yanjanin NM, Bianconi S, et al. Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab. 2010;101(2\u20133):214\u20138.","journal-title":"Mol Genet Metab."},{"issue":"2 Suppl","key":"164_CR33","first-page":"S275","volume":"36","author":"V Rodr\u00edguez-Sureda","year":"2013","unstructured":"Rodr\u00edguez-Sureda V, Ir\u00fan P, S\u00e1nchez O, et al. Molecular oxidative stress in Niemann-Pick disease type C [abstract no. P-624]. J Inherit Metab Dis. 2013;36(2 Suppl):S275.","journal-title":"J Inherit Metab Dis."},{"issue":"4","key":"164_CR34","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e318208f4ab","volume":"76","author":"N Mattsson","year":"2011","unstructured":"Mattsson N, Zetterberg H, Bianconi S, et al. \u03b3-Secretase-dependent amyloid-\u03b2 is increased in Niemann-Pick type C: a cross-sectional study. Neurology. 2011;76(4):366\u201372.","journal-title":"Neurology."},{"key":"164_CR35","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/8904_2011_47","volume":"3","author":"N Mattsson","year":"2012","unstructured":"Mattsson N, Zetterberg H, Bianconi S, et al. Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in Niemann-Pick type C. JIMD Rep. 2012;3:45\u201352.","journal-title":"JIMD Rep."},{"issue":"6","key":"164_CR36","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/s10545-012-9523-9","volume":"35","author":"M Amiri","year":"2012","unstructured":"Amiri M, Naim HY. Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of \u03b1-glucosidases, but not \u03b2-galactosidases. J Inherit Metab Dis. 2012;35(6):949\u201354.","journal-title":"J Inherit Metab Dis."},{"issue":"26","key":"164_CR37","doi-asserted-by":"crossref","first-page":"17173","DOI":"10.1073\/pnas.262586099","volume":"99","author":"AC Spoel van der","year":"2002","unstructured":"van der Spoel AC, Jeyakumar M, Butters TD, et al. Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception. Proc Natl Acad Sci USA. 2002;99(26):17173\u20138.","journal-title":"Proc Natl Acad Sci USA."},{"issue":"4","key":"164_CR38","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1095\/biolreprod.104.036053","volume":"72","author":"R Suganuma","year":"2005","unstructured":"Suganuma R, Walden CM, Butters TD, et al. Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities. Biol Reprod. 2005;72(4):805\u201313.","journal-title":"Biol Reprod."},{"issue":"5","key":"164_CR39","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1093\/humrep\/dei463","volume":"21","author":"CM Walden","year":"2006","unstructured":"Walden CM, Butter TD, Dwek RA, et al. Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin. Hum Reprod. 2006;21(5):1309\u201315.","journal-title":"Hum Reprod."},{"issue":"3","key":"164_CR40","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1093\/humrep\/del414","volume":"22","author":"JK Amory","year":"2007","unstructured":"Amory JK, Muller CH, Page ST, et al. Miglustat has no apparent effect on spermatogenesis in normal men. Hum Reprod. 2007;22(3):702\u20137.","journal-title":"Hum Reprod."},{"issue":"10","key":"164_CR41","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1177\/0091270007305298","volume":"47","author":"PLM Giersbergen van","year":"2007","unstructured":"van Giersbergen PLM, Dingemanse J. Influence of food intake on the pharmacokinetics of miglustat, an inhibitor of glucosylceramide synthase. J Clin Pharmacol. 2007;47(10):1277\u201382.","journal-title":"J Clin Pharmacol."},{"issue":"3","key":"164_CR42","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1080\/00498250601094543","volume":"37","author":"A Treiber","year":"2007","unstructured":"Treiber A, Morand O, Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica. 2007;37(3):298\u2013314.","journal-title":"Xenobiotica."},{"issue":"9","key":"164_CR43","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","volume":"6","author":"MC Patterson","year":"2007","unstructured":"Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6(9):765\u201372.","journal-title":"Lancet Neurol."},{"issue":"4","key":"164_CR44","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2009.12.006","volume":"99","author":"JE Wraith","year":"2010","unstructured":"Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010;99(4):351\u20137.","journal-title":"Mol Genet Metab."},{"issue":"3","key":"164_CR45","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1177\/0883073809344222","volume":"25","author":"MC Patterson","year":"2010","unstructured":"Patterson MC, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010;25(3):300\u20135.","journal-title":"J Child Neurol."},{"issue":"3","key":"164_CR46","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ymgme.2009.07.003","volume":"98","author":"M Pineda","year":"2009","unstructured":"Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab. 2009;98(3):243\u20139.","journal-title":"Mol Genet Metab."},{"issue":"2 Suppl","key":"164_CR47","first-page":"S263","volume":"36","author":"M Pineda","year":"2013","unstructured":"Pineda M, Mengel E, Wijburg FA, et al. Longitudinal outcomes from the international disease registry for Niemann-Pick disease type C (NP-C) [abstract no. P-579 plus poster presented at the 12th International Congress of Inborn Errors of Metabolism, 3-6 Sep 2013, Barcelona]. J Inherit Metab Dis. 2013;36(2 Suppl):S263.","journal-title":"J Inherit Metab Dis."},{"issue":"Suppl 3","key":"164_CR48","first-page":"S193","volume":"34","author":"MT Abi-Warde","year":"2011","unstructured":"Abi-Warde MT, Barth M, Brassier A, et al. Pediatric Niemann Pick C disease: clinical and MRI outcome using tensor diffusion imaging (DTI) in a series of 11 pediatric patients, 6 of them treated with miglustat [abstract no. P-346]. J Inherit Metab Dis. 2011;34(Suppl 3):S193.","journal-title":"J Inherit Metab Dis."},{"issue":"Suppl 1","key":"164_CR49","first-page":"S147","volume":"33","author":"A Bandeira","year":"2010","unstructured":"Bandeira A, Morais L, Santos M, et al. One year treatment with miglustat in infantile Niemann-pick type C [abstract no. 470-P]. J Inherit Metab Dis. 2010;33(Suppl 1):S147.","journal-title":"J Inherit Metab Dis."},{"issue":"1","key":"164_CR50","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10545-012-9479-9","volume":"36","author":"YH Chien","year":"2013","unstructured":"Chien YH, Peng SF, Yang CC, et al. Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J Inherit Metab Dis. 2013;36(1):129\u201337.","journal-title":"J Inherit Metab Dis."},{"issue":"3","key":"164_CR51","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/ajmg.a.33847","volume":"155A","author":"S Fecarotta","year":"2011","unstructured":"Fecarotta S, Amitrano M, Romano A, et al. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A. 2011;155A(3):540\u20137.","journal-title":"Am J Med Genet A."},{"issue":"Suppl 1","key":"164_CR52","doi-asserted-by":"crossref","first-page":"S52","DOI":"10.1016\/S1090-3798(11)70175-1","volume":"15","author":"G Haliloglu","year":"2011","unstructured":"Haliloglu G, Yuce A, Gurakan F, et al. Miglustat treatment in Niemann-Pick disease type C (NP-C): clinical experience in two patients [abstract no. P05.11]. Eur J Paediatr Neurol. 2011;15(Suppl 1):S52.","journal-title":"Eur J Paediatr Neurol."},{"issue":"2 Suppl","key":"164_CR53","first-page":"S277","volume":"36","author":"A Hasano\u011flu","year":"2013","unstructured":"Hasano\u011flu A, K\u00fc\u00e7\u00fck\u00e7ongar A, T\u00fcmer L, et al. Use of miglustat in four children with infantile-onset Niemann-Pick disease type C [abstract no. P-629]. J Inherit Metab Dis. 2013;36(2 Suppl):S277.","journal-title":"J Inherit Metab Dis."},{"key":"164_CR54","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1750-1172-7-36","volume":"7","author":"B H\u00e9ron","year":"2012","unstructured":"H\u00e9ron B, Valayannopoulos V, Baruteau J, et al. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis. 2012;7:36.","journal-title":"Orphanet J Rare Dis."},{"issue":"12","key":"164_CR55","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1177\/0883073812464526","volume":"28","author":"P Karimzadeh","year":"2013","unstructured":"Karimzadeh P, Tonekaboni SH, Ashrafi MR, et al. Effects of miglustat on stabilization of neurological disorder in Niemann-Pick disease type C: Iranian pediatric case series. J Child Neurol. 2013;28(12):1599\u2013606.","journal-title":"J Child Neurol."},{"issue":"Suppl 1","key":"164_CR56","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1016\/S1090-3798(11)70165-9","volume":"15","author":"M Kolnikova","year":"2011","unstructured":"Kolnikova M, Sykora P, Behulova D. Efficacy and tolerability of miglustat in patients with Niemann-Pick C disease [abstract no. P05.1]. Eur J Paediatr Neurol. 2011;15(Suppl 1):S49.","journal-title":"Eur J Paediatr Neurol."},{"issue":"1","key":"164_CR57","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/mds.21779","volume":"23","author":"AR Paciorkowski","year":"2008","unstructured":"Paciorkowski AR, Westwell M, Ounpuu S, et al. Motion analysis of a child with Niemann-Pick disease type C treated with miglustat. Mov Disord. 2008;23(1):124\u20138.","journal-title":"Mov Disord."},{"issue":"1","key":"164_CR58","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.gene.2012.06.054","volume":"506","author":"MS P\u00e9rez-Poyato","year":"2012","unstructured":"P\u00e9rez-Poyato MS, Gordo MM, Marfa MP. Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease. Gene. 2012;506(1):207\u201310.","journal-title":"Gene."},{"issue":"4","key":"164_CR59","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ymgme.2009.11.007","volume":"99","author":"M Pineda","year":"2010","unstructured":"Pineda M, Perez-Poyato MS, O\u2019Callaghan M, et al. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Mol Genet Metab. 2010;99(4):358\u201366.","journal-title":"Mol Genet Metab."},{"issue":"Suppl 2","key":"164_CR60","doi-asserted-by":"crossref","first-page":"S357","DOI":"10.1007\/s10545-008-0923-9","volume":"31","author":"ML Santos","year":"2008","unstructured":"Santos ML, Raskin S, Telles DS, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis. 2008;31(Suppl 2):S357\u201361.","journal-title":"J Inherit Metab Dis."},{"issue":"1","key":"164_CR61","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1186\/1752-1947-6-383","volume":"6","author":"J Skorpen","year":"2012","unstructured":"Skorpen J, Helland IB, Tennoe B. Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep. 2012;6(1):383.","journal-title":"J Med Case Rep."},{"issue":"2 Suppl","key":"164_CR62","first-page":"S295","volume":"36","author":"S Sreekantam","year":"2013","unstructured":"Sreekantam S, Simmons L, Santra S, et al. Effect of miglustat on neurological outcome in early infantile niemann pick C: a case report [abstract no. P-701]. J Inherit Metab Dis. 2013;36(2 Suppl):S295.","journal-title":"J Inherit Metab Dis."},{"issue":"1 Suppl","key":"164_CR63","first-page":"S231","volume":"258","author":"P Tekt\u00fcrk","year":"2011","unstructured":"Tekt\u00fcrk P, Guzel V, Yapici Z, et al. A child with Niemann-Pick type C presenting with antiepileptic drug-resistant epilepsy and treatment with miglustat [abstract no. P820]. J Neurol. 2011;258(1 Suppl):S231.","journal-title":"J Neurol."},{"issue":"1","key":"164_CR64","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ejpn.2010.02.001","volume":"15","author":"M Zarowski","year":"2011","unstructured":"Zarowski M, Steinborn B, Gurda B, et al. Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat. Eur J Paediatr Neurol. 2011;15(1):84\u20137.","journal-title":"Eur J Paediatr Neurol."},{"issue":"2 Suppl","key":"164_CR65","first-page":"S288","volume":"36","author":"E Canda","year":"2013","unstructured":"Canda E, Kagnici M, Kose M, et al. Follow-up of Niemann Pick type C patients: Ege University experience [abstract no. P-675]. J Inherit Metab Dis. 2013;36(2 Suppl):S288.","journal-title":"J Inherit Metab Dis."},{"issue":"1\u20132","key":"164_CR66","first-page":"70","volume":"98","author":"S Fecarotta","year":"2009","unstructured":"Fecarotta S, Astarita L, Bruschini D, et al. Efficacy of miglustat on the neurological involvement in Italian patients with Niemann-Pick disease type C [abstract]. Mol Genet Metab. 2009;98(1\u20132):70.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"164_CR67","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgme.2008.10.002","volume":"96","author":"D Galanaud","year":"2009","unstructured":"Galanaud D, Tourbah A, Lehericy S, et al. 24\u00a0month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab. 2009;96(2):55\u20138.","journal-title":"Mol Genet Metab."},{"issue":"3","key":"164_CR68","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ymgme.2013.07.019","volume":"110","author":"VM Ginocchio","year":"2013","unstructured":"Ginocchio VM, D\u2019Amico A, Bertini E, et al. Efficacy of miglustat in Niemann-Pick C disease: a single centre experience. Mol Genet Metab. 2013;110(3):329\u201335.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"164_CR69","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1016\/j.ymgme.2009.10.087","volume":"99","author":"E Jacklin","year":"2010","unstructured":"Jacklin E, Imrie J, Jones S, et al. Review of 11 patients with NPC1 treated with miglustat [abstract no. 70]. Mol Genet Metab. 2010;99(2):S22.","journal-title":"Mol Genet Metab."},{"issue":"1","key":"164_CR70","doi-asserted-by":"crossref","first-page":"86","DOI":"10.5114\/ninp.2012.31548","volume":"47","author":"Z Jamrozik","year":"2013","unstructured":"Jamrozik Z, Szczudlik P, Lugowska A, et al. A case report of \u2018variant\u2019 biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options. Neurol Neurochir Pol. 2013;47(1):86\u20139.","journal-title":"Neurol Neurochir Pol."},{"issue":"Suppl 1","key":"164_CR71","first-page":"S121","volume":"28","author":"S Jes\u00fas","year":"2013","unstructured":"Jes\u00fas S, C\u00e1ceres-Redondo MT, Carrillo F, et al. The adult form of Niemann-Pick type C with the biochemical variant mutation on treatment with miglustat [abstract no. 330]. Mov Disord. 2013;28(Suppl 1):S121.","journal-title":"Mov Disord."},{"issue":"Suppl 1","key":"164_CR72","first-page":"S133","volume":"33","author":"CM Lourenco","year":"2010","unstructured":"Lourenco CM, Linden VD, Camelo JS, et al. Substrate reduction therapy in the treatment of neurolipidoses: Niemann-pick type C as a paradigm [abstract no. 421-P]. J Inherit Metab Dis. 2010;33(Suppl 1):S133.","journal-title":"J Inherit Metab Dis."},{"issue":"3 Suppl","key":"164_CR73","first-page":"S259","volume":"34","author":"F Sedel","year":"2011","unstructured":"Sedel F, Audoin B, Chabrol B, et al. Follow up using NMR spectroscopy of 13 adult Niemann Pick C patients treated with Zavesca [abstract no. O-069]. J Inherit Metab Dis. 2011;34(3 Suppl):S259.","journal-title":"J Inherit Metab Dis."},{"issue":"1","key":"164_CR74","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.pediatrneurol.2012.04.005","volume":"47","author":"M Rocco Di","year":"2012","unstructured":"Di Rocco M, Dardis A, Madeo A, et al. Early miglustat therapy in infantile Niemann-Pick disease type C. Pediatr Neurol. 2012;47(1):40\u20133.","journal-title":"Pediatr Neurol."},{"issue":"1","key":"164_CR75","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ymgme.2012.11.009","volume":"108","author":"M Walterfang","year":"2013","unstructured":"Walterfang M, Abel LA, Desmond P, et al. Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C. Mol Genet Metab. 2013;108(1):85\u20139.","journal-title":"Mol Genet Metab."},{"issue":"7","key":"164_CR76","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.3174\/ajnr.A3356","volume":"34","author":"M Walterfang","year":"2013","unstructured":"Walterfang M, Patenaude B, Abel LA, et al. Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study. AJNR Am J Neuroradiol. 2013;34(7):1334\u201340.","journal-title":"AJNR Am J Neuroradiol."},{"issue":"3","key":"164_CR77","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1111\/j.1468-1331.2011.03545.x","volume":"19","author":"M Walterfang","year":"2012","unstructured":"Walterfang M, Macfarlane MD, Looi JC, et al. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. Eur J Neurol. 2012;19(3):462\u20137.","journal-title":"Eur J Neurol."},{"issue":"7","key":"164_CR78","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.3174\/ajnr.A2490","volume":"32","author":"M Walterfang","year":"2011","unstructured":"Walterfang M, Fahey M, Abel L, et al. Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables. AJNR Am J Neuroradiol. 2011;32(7):1340\u20136.","journal-title":"AJNR Am J Neuroradiol."},{"issue":"1","key":"164_CR79","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1212\/WNL.0b013e3181e6210e","volume":"75","author":"M Walterfang","year":"2010","unstructured":"Walterfang M, Fahey M, Desmond P, et al. White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. Neurology. 2010;75(1):49\u201356.","journal-title":"Neurology."},{"issue":"3","key":"164_CR80","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.ymgme.2009.10.180","volume":"99","author":"M Scheel","year":"2010","unstructured":"Scheel M, Abegg M, Lanyon LJ, et al. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient. Mol Genet Metab. 2010;99(3):291\u20135.","journal-title":"Mol Genet Metab."},{"issue":"5","key":"164_CR81","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s10545-011-9368-7","volume":"34","author":"N Belmatoug","year":"2011","unstructured":"Belmatoug N, Burlina A, Giraldo P, et al. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011;34(5):991\u20131001.","journal-title":"J Inherit Metab Dis."},{"key":"164_CR82","unstructured":"Actelion Pharmaceuticals Ltd. Zavesca\u00ae product availability and regulatory status. 2013. http:\/\/www.1.actelion.com\/en\/healthcare-professionals\/products\/zavesca\/product-availability-and-regulatory-status.page ? Accessed 11 Sep 2013."},{"issue":"11","key":"164_CR83","doi-asserted-by":"crossref","first-page":"e50947","DOI":"10.1371\/journal.pone.0050947","volume":"7","author":"LA Abel","year":"2012","unstructured":"Abel LA, Bowman EA, Velakoulis D, et al. Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures. PLoS ONE. 2012;7(11):e50947.","journal-title":"PLoS ONE."},{"key":"164_CR84","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/1750-1172-7-76","volume":"7","author":"M Walterfang","year":"2012","unstructured":"Walterfang M, Chien Y-H, Imrie J, et al. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012;7:76.","journal-title":"Orphanet J Rare Dis."}],"container-title":["Drugs"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40265-013-0164-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40265-013-0164-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40265-013-0164-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T13:46:24Z","timestamp":1647697584000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40265-013-0164-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,12]]},"references-count":84,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["164"],"URL":"https:\/\/doi.org\/10.1007\/s40265-013-0164-6","relation":{},"ISSN":["0012-6667","1179-1950"],"issn-type":[{"value":"0012-6667","type":"print"},{"value":"1179-1950","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,12]]}}}