213 related articles for article (PubMed ID: 20826119)
1. [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]
2. [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]
3. 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]
4. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
[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. 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]
7. [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]
8. Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J; Rodríguez-Pascau L; Sánchez-Ollé G; Lluch M; Vilageliu L; Grinberg D; Coll MJ;
Clin Genet; 2011 Jul; 80(1):39-49. PubMed ID: 20718790
[TBL] [Abstract][Full Text] [Related]
9. [Research advances in diagnosis and therapy of Niemann-Pick disease type C].
Ren SC; Gao BQ
Zhongguo Dang Dai Er Ke Za Zhi; 2015 May; 17(5):533-8. PubMed ID: 26014711
[TBL] [Abstract][Full Text] [Related]
10. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
Degtyareva AV; Proshlyakova TY; Gautier MS; Degtyarev DN; Kamenets EA; Baydakova GV; Rebrikov DV; Zakharova EY
BMC Med Genet; 2019 Jul; 20(1):123. PubMed ID: 31296176
[TBL] [Abstract][Full Text] [Related]
11. Prenatal revelation of Niemann-Pick disease type C in siblings.
Moreno R; Lardennois C; Drouin-Garraud V; Verspyck E; Marret S; Laquerrière A
Acta Paediatr; 2008 Aug; 97(8):1136-9. PubMed ID: 18554276
[TBL] [Abstract][Full Text] [Related]
12. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
Alavi A; Nafissi S; Shamshiri H; Nejad MM; Elahi E
Mol Genet Metab; 2013; 110(1-2):139-44. PubMed ID: 23791309
[TBL] [Abstract][Full Text] [Related]
13. NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Louwette S; Régal L; Wittevrongel C; Thys C; Vandeweeghde G; Decuyper E; Leemans P; De Vos R; Van Geet C; Jaeken J; Freson K
Hum Mol Genet; 2013 Jan; 22(1):61-73. PubMed ID: 23010472
[TBL] [Abstract][Full Text] [Related]
14. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K; Rodriguez C; Vey S; Vanier MT; Millat G
Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.
Park SW; Park JH; Moon HJ; Shin M; Moon JS; Ko JS
Korean J Gastroenterol; 2021 Oct; 78(4):240-244. PubMed ID: 34697279
[TBL] [Abstract][Full Text] [Related]
17. Rapid whole-genome sequencing identifies a novel homozygous
Hildreth A; Wigby K; Chowdhury S; Nahas S; Barea J; Ordonez P; Batalov S; Dimmock D; Kingsmore S;
Cold Spring Harb Mol Case Stud; 2017 Sep; 3(5):. PubMed ID: 28550066
[TBL] [Abstract][Full Text] [Related]
18. Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.
Lloyd-Evans E; Platt FM
Traffic; 2010 Apr; 11(4):419-28. PubMed ID: 20059748
[TBL] [Abstract][Full Text] [Related]
19. Niemann-Pick Disease Type C: from molecule to clinic.
Tang Y; Li H; Liu JP
Clin Exp Pharmacol Physiol; 2010 Jan; 37(1):132-40. PubMed ID: 19566836
[TBL] [Abstract][Full Text] [Related]
20. A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
Gardin A; Mussini C; Héron B; Schiff M; Brassier A; Dobbelaere D; Broué P; Sevin C; Vanier MT; Habes D; Jacquemin E; Gonzales E
J Pediatr; 2023 Mar; 254():75-82.e4. PubMed ID: 36265573
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]