154 related articles for article (PubMed ID: 23791518)
1. 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. PubMed ID: 23791518
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 22704015
[TBL] [Abstract][Full Text] [Related]
3. [Niemann-Pick type C disease. Rare but possible diagnosis in adult neurology and psychiatry].
Mattsson N; Månsson JE; Blomqvist M; Campbell E
Lakartidningen; 2013 May 7-21; 110(19-20):956-7. PubMed ID: 23745504
[No Abstract] [Full Text] [Related]
4. [Niemann-Pick diseases in adults].
Sedel F
Rev Med Interne; 2007 Dec; 28 Suppl 4():S292-3. PubMed ID: 17961863
[No Abstract] [Full Text] [Related]
5. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
Maubert A; Hanon C; Metton JP
Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
[TBL] [Abstract][Full Text] [Related]
6. 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; 506(1):207-10. PubMed ID: 22750297
[TBL] [Abstract][Full Text] [Related]
7. 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.
Cuisset JM; Sukno S; Trauffler A; Latour P; Dobbelaere D; Michaud L; Vallée L
J Med Case Rep; 2016 Sep; 10(1):241. PubMed ID: 27599728
[TBL] [Abstract][Full Text] [Related]
8. 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.
Ribas GS; Souza HM; de Mari J; Deon M; Mescka C; Saraiva-Pereira ML; Kessler R; Trapp F; Michelin K; Burin M; Vargas CR; Giugliani R
Clin Chim Acta; 2016 Aug; 459():57-62. PubMed ID: 27234403
[No Abstract] [Full Text] [Related]
9. 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():36. PubMed ID: 22676771
[TBL] [Abstract][Full Text] [Related]
10. [Niemann-Pick disease--a rare disease in children's hepatology (a clinical case)].
Berezenko VS; Dyba MB
Eksp Klin Gastroenterol; 2014; (8):101-5. PubMed ID: 25911921
[TBL] [Abstract][Full Text] [Related]
11. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Hammerschmidt TG; de Oliveira Schmitt Ribas G; Saraiva-Pereira ML; Bonatto MP; Kessler RG; Souza FTS; Trapp F; Michelin-Tirelli K; Burin MG; Giugliani R; Vargas CR
Int J Dev Neurosci; 2018 May; 66():18-23. PubMed ID: 29197565
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 19822772
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 26984608
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 23973268
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 24119781
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 23143717
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 17689147
[TBL] [Abstract][Full Text] [Related]
18. [Niemann Pick type C disease].
Fornfeist S
Kinderkrankenschwester; 2010 Sep; 29(9):372-4. PubMed ID: 20942310
[No Abstract] [Full Text] [Related]
19. Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.
Abel LA; Walterfang M; Stainer MJ; Bowman EA; Velakoulis D
Orphanet J Rare Dis; 2015 Dec; 10():160. PubMed ID: 26691656
[TBL] [Abstract][Full Text] [Related]
20. A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.
Jamrozik Z; Szczudlik P; Lugowska A; Weiß S; Rolfs A; Czartoryska B; Kwieciński H
Neurol Neurochir Pol; 2013; 47(1):86-9. PubMed ID: 23487299
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
