232 related articles for article (PubMed ID: 12142809)
1. Niemann-pick disease type C in neonatal cholestasis at a North American Center.
Yerushalmi B; Sokol RJ; Narkewicz MR; Smith D; Ashmead JW; Wenger DA
J Pediatr Gastroenterol Nutr; 2002 Jul; 35(1):44-50. PubMed ID: 12142809
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.
Kelly DA; Portmann B; Mowat AP; Sherlock S; Lake BD
J Pediatr; 1993 Aug; 123(2):242-7. PubMed ID: 7688422
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C.
Imrie J; Wraith JE
Arch Dis Child; 2001 May; 84(5):427-9. PubMed ID: 11316691
[TBL] [Abstract][Full Text] [Related]
6. Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -.
Schneider AR; Stichling F; Hoffmann M; Scheler R; Arnold JC; Riemann JF
Z Gastroenterol; 2001 Nov; 39(11):971-4. PubMed ID: 11778157
[TBL] [Abstract][Full Text] [Related]
7. Niemann-Pick-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants.
Kristjansson K; Finegold MJ; Pentchev PG; Belmont JW
Eur J Pediatr; 1994 May; 153(5):347-51. PubMed ID: 8033925
[TBL] [Abstract][Full Text] [Related]
8. The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease.
Rodrigues AF; Gray RG; Preece MA; Brown R; Hill FG; Baumann U; McKiernan PJ
Arch Dis Child; 2006 Oct; 91(10):841-4. PubMed ID: 16737996
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
Wang NL; Lin J; Chen L; Lu Y; Xie XB; Abuduxikuer K; Wang JS
BMC Gastroenterol; 2022 May; 22(1):227. PubMed ID: 35534800
[TBL] [Abstract][Full Text] [Related]
12. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
Polo G; Burlina A; Furlan F; Kolamunnage T; Cananzi M; Giordano L; Zaninotto M; Plebani M; Burlina A
Clin Chem Lab Med; 2016 Jul; 54(7):1221-9. PubMed ID: 26650075
[TBL] [Abstract][Full Text] [Related]
13. Niemann-Pick variant lipidosis presenting as "neonatal hepatitis".
Semeraro LA; Riely CA; Kolodny EH; Dickerson GR; Gryboski JD
J Pediatr Gastroenterol Nutr; 1986; 5(3):492-500. PubMed ID: 3723274
[TBL] [Abstract][Full Text] [Related]
14. [Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult].
Tyvaert L; Stojkovic T; Cuisset JM; Vanier MT; Turpin JC; De Sèze J; Vermersch P
Rev Neurol (Paris); 2005 Mar; 161(3):318-22. PubMed ID: 15800453
[TBL] [Abstract][Full Text] [Related]
15. Neonatal cholestasis and Niemann-pick type C disease: A literature review.
López de Frutos L; Cebolla JJ; de Castro-Orós I; Irún P; Giraldo P
Clin Res Hepatol Gastroenterol; 2021 Nov; 45(6):101757. PubMed ID: 34303826
[TBL] [Abstract][Full Text] [Related]
16. Ocular findings in patients with cholestatic disorders of infancy: A single-centre experience.
El-Karaksy H; Hamed D; Fouad H; Mogahed E; Helmy H; Hasanain F
Arab J Gastroenterol; 2017 Jun; 18(2):108-113. PubMed ID: 28583322
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.
Shulman LM; David NJ; Weiner WJ
Neurology; 1995 Sep; 45(9):1739-43. PubMed ID: 7675237
[TBL] [Abstract][Full Text] [Related]
19. Adult onset Niemann-Pick disease type C presenting with psychosis.
Josephs KA; Van Gerpen MW; Van Gerpen JA
J Neurol Neurosurg Psychiatry; 2003 Apr; 74(4):528-9. PubMed ID: 12640083
[TBL] [Abstract][Full Text] [Related]
20. Nonsyndromic paucity of interlobular bile ducts: report of 10 patients.
Yehezkely-Schildkraut V; Munichor M; Mandel H; Berkowitz D; Hartman C; Eshach-Adiv O; Shamir R
J Pediatr Gastroenterol Nutr; 2003 Nov; 37(5):546-9. PubMed ID: 14581794
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]