213 related articles for article (PubMed ID: 15234149)
1. Ocular manifestations of Niemann-Pick disease type B.
McGovern MM; Wasserstein MP; Aron A; Desnick RJ; Schuchman EH; Brodie SE
Ophthalmology; 2004 Jul; 111(7):1424-7. PubMed ID: 15234149
[TBL] [Abstract][Full Text] [Related]
2. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Mihaylova V; Hantke J; Sinigerska I; Cherninkova S; Raicheva M; Bouwer S; Tincheva R; Khuyomdziev D; Bertranpetit J; Chandler D; Angelicheva D; Kremensky I; Seeman P; Tournev I; Kalaydjieva L
Brain; 2007 Apr; 130(Pt 4):1050-61. PubMed ID: 17360762
[TBL] [Abstract][Full Text] [Related]
3. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
[TBL] [Abstract][Full Text] [Related]
4. Preimplantation genetic diagnosis for Niemann-Pick disease type B.
Hellani A; Schuchman EH; Al-Odaib A; Al Aqueel A; Jaroudi K; Ozand P; Coskun S
Prenat Diagn; 2004 Dec; 24(12):943-8. PubMed ID: 15612058
[TBL] [Abstract][Full Text] [Related]
5. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
Wasserstein MP; Aron A; Brodie SE; Simonaro C; Desnick RJ; McGovern MM
J Pediatr; 2006 Oct; 149(4):554-9. PubMed ID: 17011332
[TBL] [Abstract][Full Text] [Related]
6. Ophthalmologic manifestations of type B Niemann-Pick diseases.
Filling-Katz MR; Fink JK; Gorin MB; Caruso R; Carl JB; Fitzgibbon EJ; Barton NW; Katz NN
Metab Pediatr Syst Ophthalmol (1985); 1992; 15(1-3):16-20. PubMed ID: 1484498
[TBL] [Abstract][Full Text] [Related]
7. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
Hum Mutat; 2004 Jul; 24(1):105. PubMed ID: 15221801
[TBL] [Abstract][Full Text] [Related]
8. Niemann-Pick disease type B with ocular involvement: report of a case.
Tsai FJ; Peng CT; Tsai CH; Hwu WL; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1991; 32(3):177-82. PubMed ID: 1776442
[TBL] [Abstract][Full Text] [Related]
9. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Harzer K; Rolfs A; Bauer P; Zschiesche M; Mengel E; Backes J; Kustermann-Kuhn B; Bruchelt G; van Diggelen OP; Mayrhofer H; Krägeloh-Mann I
Neuropediatrics; 2003 Dec; 34(6):301-6. PubMed ID: 14681755
[TBL] [Abstract][Full Text] [Related]
10. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
Wasserstein MP; Desnick RJ; Schuchman EH; Hossain S; Wallenstein S; Lamm C; McGovern MM
Pediatrics; 2004 Dec; 114(6):e672-7. PubMed ID: 15545621
[TBL] [Abstract][Full Text] [Related]
11. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Dardis A; Zampieri S; Filocamo M; Burlina A; Bembi B; Pittis MG
Hum Mutat; 2005 Aug; 26(2):164. PubMed ID: 16010684
[TBL] [Abstract][Full Text] [Related]
12. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
Takahashi T; Suchi M; Desnick RJ; Takada G; Schuchman EH
J Biol Chem; 1992 Jun; 267(18):12552-8. PubMed ID: 1618760
[TBL] [Abstract][Full Text] [Related]
13. Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.
Gluck I; Zeigler M; Bargal R; Schiff E; Bach G
Hum Mutat; 1998; 12(2):136. PubMed ID: 10694919
[TBL] [Abstract][Full Text] [Related]
14. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A
Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287
[TBL] [Abstract][Full Text] [Related]
15. Clinical findings in Niemann-Pick disease type B.
Müssig K; Harzer K; Mayrhofer H; Krägeloh-Mann I; Häring HU; Machicao F
Intern Med J; 2006 Feb; 36(2):135-6. PubMed ID: 16472269
[No Abstract] [Full Text] [Related]
16. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
Levran O; Desnick RJ; Schuchman EH
J Clin Invest; 1991 Sep; 88(3):806-10. PubMed ID: 1885770
[TBL] [Abstract][Full Text] [Related]
17. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE; de Sonnaville ES; Cassiman D; Linthorst GE; Groener JE; Morava E; Wevers RA; Mannens M; Aerts JM; Meersseman W; Akkerman E; Niezen-Koning KE; Mulder MF; Visser G; Wijburg FA; Lefeber D; Poorthuis BJ
Mol Genet Metab; 2012 Nov; 107(3):526-33. PubMed ID: 22818240
[TBL] [Abstract][Full Text] [Related]
18. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM; Ballart A; Iturriaga C; Lluch M; Macias J; Vanier MT; Pineda M; Coll MJ
Clin Genet; 2005 Sep; 68(3):245-54. PubMed ID: 16098014
[TBL] [Abstract][Full Text] [Related]
19. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
Aykut A; Karaca E; Onay H; Ucar SK; Coker M; Cogulu O; Ozkinay F
Gene; 2013 Sep; 526(2):484-6. PubMed ID: 23618813
[TBL] [Abstract][Full Text] [Related]
20. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
Tamura H; Takahashi T; Ban N; Torisu H; Ninomiya H; Takada G; Inagaki N
Mol Genet Metab; 2006 Feb; 87(2):113-21. PubMed ID: 16143556
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
