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Items: 1 to 20 of 260

1.

Early miglustat therapy in infantile Niemann-Pick disease type C.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A.

Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005.

PMID:
22704015
2.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

3.
4.

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

Pérez-Poyato MS, Gordo MM, Marfa MP.

Gene. 2012 Sep 10;506(1):207-10. doi: 10.1016/j.gene.2012.06.054. Epub 2012 Jun 28.

PMID:
22750297
5.

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

Chien YH, Lee NC, Tsai LK, Huang AC, Peng SF, Chen SJ, Hwu WL.

J Inherit Metab Dis. 2007 Oct;30(5):826. Epub 2007 Jun 21.

PMID:
17603755
6.

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.

Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I.

Eur J Paediatr Neurol. 2014 Jan;18(1):75-8. doi: 10.1016/j.ejpn.2013.08.002. Epub 2013 Oct 1.

PMID:
24119781
7.

Long-term miglustat therapy in children with Niemann-Pick disease type C.

Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE.

J Child Neurol. 2010 Mar;25(3):300-5. doi: 10.1177/0883073809344222. Epub 2009 Oct 12.

PMID:
19822772
8.

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.

Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE.

Lancet Neurol. 2007 Sep;6(9):765-72.

PMID:
17689147
9.

[Adult onset Niemann-Pick type C disease and psychosis: literature review].

Maubert A, Hanon C, Metton JP.

Encephale. 2013 Oct;39(5):315-9. doi: 10.1016/j.encep.2013.04.013. Epub 2013 Aug 5. Review. French.

PMID:
23928063
10.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Ginocchio VM, D'Amico A, Bertini E, Ceravolo F, Dardis A, Verrigni D, Bembi B, Dionisi-Vici C, Deodato F.

Mol Genet Metab. 2013 Nov;110(3):329-35. doi: 10.1016/j.ymgme.2013.07.019. Epub 2013 Aug 7.

PMID:
23973268
11.

Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

Karimzadeh P, Tonekaboni SH, Ashrafi MR, Shafeghati Y, Rezayi A, Salehpour S, Ghofrani M, Taghdiri MM, Rahmanifar A, Zaman T, Aryani O, Shoar BN, Shiva F, Tavasoli A, Houshmand M.

J Child Neurol. 2013 Dec;28(12):1599-606. doi: 10.1177/0883073812464526. Epub 2012 Nov 8.

PMID:
23143717
12.

Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Sedel F, Chabrol B, Audoin B, Kaphan E, Tranchant C, Burzykowski T, Tourbah A, Vanier MT, Galanaud D.

J Neurol. 2016 May;263(5):927-936. doi: 10.1007/s00415-016-8051-1. Epub 2016 Mar 16.

13.

Motion analysis of a child with Niemann-Pick disease type C treated with miglustat.

Paciorkowski AR, Westwell M, Ounpuu S, Bell K, Kagan J, Mazzarella C, Greenstein RM.

Mov Disord. 2008 Jan;23(1):124-8.

PMID:
17973331
14.

Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.

Jesús S, Cáceres-Redondo MT, Carrillo F, Cordones I, Escudero M, Macías-Vidal J, Coll MJ, Bautista J, Mir P.

Parkinsonism Relat Disord. 2013 Oct;19(10):916-7. doi: 10.1016/j.parkreldis.2013.05.016. Epub 2013 Jun 19. No abstract available.

PMID:
23791518
15.

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.

Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC.

Mol Genet Metab. 2009 Nov;98(3):243-9. doi: 10.1016/j.ymgme.2009.07.003. Epub 2009 Aug 4.

PMID:
19656703
16.

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.

Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators.

Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.

17.

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlaskova H, Kothare SV.

Eur J Paediatr Neurol. 2011 Jan;15(1):84-7. doi: 10.1016/j.ejpn.2010.02.001. Epub 2010 Mar 6.

PMID:
20207562
18.

Niemann-Pick type C: a potentially treatable disorder?

Kheder A, Scott C, Olpin S, Hadjivassiliou M.

Pract Neurol. 2013 Dec;13(6):382-5. doi: 10.1136/practneurol-2013-000525. Epub 2013 Aug 1.

PMID:
23906593
19.

Miglustat: a review of its use in Niemann-Pick disease type C.

Lyseng-Williamson KA.

Drugs. 2014 Jan;74(1):61-74. doi: 10.1007/s40265-013-0164-6. Review.

PMID:
24338084
20.

Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy.

Ribas GS, Pires R, Coelho JC, Rodrigues D, Mescka CP, Vanzin CS, Biancini GB, Negretto G, Wayhs CA, Wajner M, Vargas CR.

Int J Dev Neurosci. 2012 Oct;30(6):439-44. doi: 10.1016/j.ijdevneu.2012.07.002. Epub 2012 Jul 20.

PMID:
22820346

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