574 related articles for article (PubMed ID: 27250337)
1. 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.
Degtyareva AV; Mikhailova SV; Zakharova EY; Tumanova EL; Puchkova AA
J Med Case Rep; 2016 Jun; 10(1):143. PubMed ID: 27250337
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.
Winstone AM; Stellitano LA; Verity CM
Dev Med Child Neurol; 2017 Sep; 59(9):965-972. PubMed ID: 28574146
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].
Yang R; Tan D; Wang Y; Ye J; Han L; Qiu W; Gu X; Zhang H
Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):57-61. PubMed ID: 25748406
[TBL] [Abstract][Full Text] [Related]
7. [Niemann-Pick type C disease and psychosis: Two siblings].
Maubert A; Hanon C; Metton JP
Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
[TBL] [Abstract][Full Text] [Related]
8. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y; Hütter-Moncada AL; Latour P; Ayrignac X; Kaphan E; Tranchant C; Cintas P; Degardin A; Goizet C; Laurencin C; Martzolff L; Tilikete C; Anheim M; Audoin B; Deramecourt V; De Gaillarbois TD; Roze E; Lamari F; Vanier MT; Héron B
Orphanet J Rare Dis; 2018 Oct; 13(1):175. PubMed ID: 30285904
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis; 2010 Jun; 5():16. PubMed ID: 20525256
[TBL] [Abstract][Full Text] [Related]
12. [Niemann-Pick type C disease: clinical presentations in pediatric patients].
Héron B; Ogier H
Arch Pediatr; 2010 Jun; 17 Suppl 2():S45-9. PubMed ID: 20620895
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
Pineda M; Juríčková K; Karimzadeh P; Kolnikova M; Malinova V; Insua JL; Velten C; Kolb SA
Orphanet J Rare Dis; 2019 Jan; 14(1):32. PubMed ID: 30732631
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
Bulut FD; Bozbulut NE; Özalp Ö; Dalgiç B; Mungan NÖ; Koç Uçar H; Biberoğlu G
J Pediatr Endocrinol Metab; 2022 May; 35(5):681-685. PubMed ID: 35107903
[TBL] [Abstract][Full Text] [Related]
17. [Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].
Ren SC; Tian ZX; Deng YX; Wang YJ; Wu XJ; Zhang YZ; Gao BQ
Zhonghua Yi Xue Za Zhi; 2018 Jan; 98(4):284-288. PubMed ID: 29397615
[No Abstract] [Full Text] [Related]
18. Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.
Çakar NE; Önal H
Ideggyogy Sz; 2021 Mar; 74(3-4):139-144. PubMed ID: 33938663
[TBL] [Abstract][Full Text] [Related]
19. Niemann-Pick type C: a potentially treatable disorder?
Kheder A; Scott C; Olpin S; Hadjivassiliou M
Pract Neurol; 2013 Dec; 13(6):382-5. PubMed ID: 23906593
[TBL] [Abstract][Full Text] [Related]
20. [Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].
Fraile PQ; Hernández EM; Martínez de Aragón A; Macias-Vidal J; Coll MJ; Espert AN; Silva MT
An Pediatr (Barc); 2010 Nov; 73(5):257-63. PubMed ID: 20826119
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
