272 related articles for article (PubMed ID: 29397615)
1. [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]
2. [Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].
Zhan X; Lin N; Zhang HW; Gao XL; Qiu WJ; Han LS; Ye J; Gu XF
Zhonghua Er Ke Za Zhi; 2016 Jun; 54(6):419-23. PubMed ID: 27256227
[TBL] [Abstract][Full Text] [Related]
3. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H; Higaki K; Wei CJ; Bao XH; Zhang YH; Fu N; Qin J; Adachi K; Kumura Y; Ninomiya H; Nanba E; Wu XR
Gene; 2012 May; 498(2):332-5. PubMed ID: 22326530
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC; Soran V; Marfa MP; Imrie J; Gissen P; Jahnova H; Sharma R; Jones S; Santra S; Crushell E; Stampfer M; Coll MJ; Dawson C; Mathieson T; Green J; Dardis A; Bembi B; Patterson MC; Vanier MT; Geberhiwot T
Orphanet J Rare Dis; 2022 Feb; 17(1):51. PubMed ID: 35164809
[TBL] [Abstract][Full Text] [Related]
7. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B; Baruteau J; Rahim AA; Gissen P
Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32709131
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
Kawazoe T; Yamamoto T; Narita A; Ohno K; Adachi K; Nanba E; Noguchi A; Takahashi T; Maekawa M; Eto Y; Ogawa M; Murata M; Takahashi Y
BMC Neurol; 2018 Aug; 18(1):117. PubMed ID: 30119649
[TBL] [Abstract][Full Text] [Related]
9. Niemann-Pick disease type C: analysis of 7 patients.
Xiong H; Bao XH; Zhang YH; Xu YN; Qin J; Shi HP; Wu XR
World J Pediatr; 2012 Feb; 8(1):61-6. PubMed ID: 21633862
[TBL] [Abstract][Full Text] [Related]
10. Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
Dweikat I; Thaher O; Abosleem A; Zeer A; Mokh AA
BMC Med Genomics; 2021 Sep; 14(1):228. PubMed ID: 34535129
[TBL] [Abstract][Full Text] [Related]
11. Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.
Kodachi T; Matsumoto S; Mizuguchi M; Osaka H; Kanai N; Nanba E; Ohno K; Yamagata T
Neuropathology; 2017 Oct; 37(5):426-430. PubMed ID: 28387450
[TBL] [Abstract][Full Text] [Related]
12. Niemann-Pick disease type C in the newborn period: a single-center experience.
Gumus E; Haliloglu G; Karhan AN; Demir H; Gurakan F; Topcu M; Yuce A
Eur J Pediatr; 2017 Dec; 176(12):1669-1676. PubMed ID: 28951965
[TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
Piña-Aguilar RE; Vera-Loaiza A; Chacón-Camacho OF; Zenteno JC; Nuñez-Orozco L; Santillán-Hernández Y
Case Rep Neurol Med; 2014; 2014():785890. PubMed ID: 25349751
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. [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]
16. Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Chamova T; Kirov A; Guergueltcheva V; Todorov T; Bojinova V; Zhelyazkova S; Samuel J; Radionova M; Sarafov S; Cherninkova S; Krastev S; Todorova A; Tournev I
Eur Neurol; 2016; 75(3-4):113-23. PubMed ID: 26910362
[TBL] [Abstract][Full Text] [Related]
17. Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis; 2010 Jun; 5():16. PubMed ID: 20525256
[TBL] [Abstract][Full Text] [Related]
18. The adult form of Niemann-Pick disease type C.
Sévin M; Lesca G; Baumann N; Millat G; Lyon-Caen O; Vanier MT; Sedel F
Brain; 2007 Jan; 130(Pt 1):120-33. PubMed ID: 17003072
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. 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]
[Next] [New Search]