232 related articles for article (PubMed ID: 12142809)
21. 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]
22. A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.
Kumagai T; Terashima H; Uchida H; Fukuda A; Kasahara M; Kosuga M; Okuyama T; Tsunoda T; Inui A; Fujisawa T; Narita A; Eto Y; Kubota M
Brain Dev; 2019 May; 41(5):460-464. PubMed ID: 30737051
[TBL] [Abstract][Full Text] [Related]
23. [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]
24. [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]
25. 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]
26. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.
Iturriaga C; Pineda M; Fernández-Valero EM; Vanier MT; Coll MJ
J Neurol Sci; 2006 Nov; 249(1):1-6. PubMed ID: 16814322
[TBL] [Abstract][Full Text] [Related]
27. The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.
Wang NL; Chen L; Lu Y; Xie XB; Lin J; Abuduxikuer K; Wang JS
Front Genet; 2022; 13():867413. PubMed ID: 35368683
[TBL] [Abstract][Full Text] [Related]
28. Early diagnosis in Niemann-Pick disease.
Toussi T; Delvin EE; Glorieux FH; Goldman H
Can Med Assoc J; 1974 Sep; 111(6):556, 559-60. PubMed ID: 4412885
[TBL] [Abstract][Full Text] [Related]
29. Niemann-Pick type C disease and early cholestasis in three brothers.
Jaeken J; Proesmans W; Eggermont E; Van Hoof F; Den Tandt W; Standaert L; Van Herck G; Corbeel L
Acta Paediatr Belg; 1980; 33(1):43-6. PubMed ID: 7405586
[No Abstract] [Full Text] [Related]
30. [Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].
Wakida K; Matsuyama Z; Suzuki Y; Sawada M; Tsurumi H; Kimura A; Hayashi Y; Hashizume T; Hozumi I; Inuzuka T
No To Shinkei; 2004 Dec; 56(12):1047-53. PubMed ID: 15729883
[TBL] [Abstract][Full Text] [Related]
31. Metastatic hepatocellular carcinoma in a patient with niemann-pick disease, type C.
Birch NC; Radio S; Horslen S
J Pediatr Gastroenterol Nutr; 2003 Nov; 37(5):624-6. PubMed ID: 14581809
[No Abstract] [Full Text] [Related]
32. Niemann-Pick disease type C: two cases and an update.
Uc EY; Wenger DA; Jankovic J
Mov Disord; 2000 Nov; 15(6):1199-203. PubMed ID: 11104205
[TBL] [Abstract][Full Text] [Related]
33. [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]
34. 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]
35. Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly.
Hulette CM; Earl NL; Anthony DC; Crain BJ
Clin Neuropathol; 1992; 11(6):293-7. PubMed ID: 1473312
[TBL] [Abstract][Full Text] [Related]
36. Ultrastructural findings in skin from patients with Niemann-Pick disease, type C.
Boustany RN; Kaye E; Alroy J
Pediatr Neurol; 1990; 6(3):177-83. PubMed ID: 2360958
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.
Lossos A; Schlesinger I; Okon E; Abramsky O; Bargal R; Vanier MT; Zeigler M
Arch Neurol; 1997 Dec; 54(12):1536-41. PubMed ID: 9400363
[TBL] [Abstract][Full Text] [Related]
39. Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C.
Watanabe Y; Akaboshi S; Ishida G; Takeshima T; Yano T; Taniguchi M; Ohno K; Nakashima K
Brain Dev; 1998 Mar; 20(2):95-7. PubMed ID: 9545179
[TBL] [Abstract][Full Text] [Related]
40. [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].
Grau AJ; Weisbrod M; Hund E; Harzer K
Nervenarzt; 2003 Oct; 74(10):900-5. PubMed ID: 14551697
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
