136 related articles for article (PubMed ID: 7992693)
1. Niemann-Pick disease: newer classification based on genetic mutations of the disease.
Weisz B; Spirer Z; Reif S
Adv Pediatr; 1994; 41():415-26. PubMed ID: 7992693
[No Abstract] [Full Text] [Related]
2. [The current state of Niemann-Pick disease: evaluation of six cases].
González de Dios J; Fernández Tejada E; Díaz Fernández MC; Ortega Páez E; Hernández González J; de la Vega Bueno A; Hierro Llanillo L; Larrauri Martínez J; Jara Vega P
An Esp Pediatr; 1990 Feb; 32(2):143-8. PubMed ID: 2189323
[TBL] [Abstract][Full Text] [Related]
3. [Type C Niemann-Pick disease].
Piñán MA; Prats J; Chabas A
Sangre (Barc); 1991 Oct; 36(5):431-2. PubMed ID: 1816641
[No Abstract] [Full Text] [Related]
4. 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]
5. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.
Hsu YS; Hwu WL; Huang SF; Lu MY; Chen RL; Lin DT; Peng SS; Lin KH
Bone Marrow Transplant; 1999 Jul; 24(1):103-7. PubMed ID: 10435744
[TBL] [Abstract][Full Text] [Related]
6. [Niemann-Pick disease (Crocker type B)].
Iampol'skaia SA
Arkh Patol; 1977; 39(6):55-8. PubMed ID: 907508
[TBL] [Abstract][Full Text] [Related]
7. Niemann-Pick disease-type C: a case report.
Pradeep KE; Supriya NK
Indian J Pathol Microbiol; 2001 Jul; 44(3):339-40. PubMed ID: 12024927
[TBL] [Abstract][Full Text] [Related]
8. [Niemann-Pick disease--including various disease types].
Orii T
Nihon Rinsho; 1978 May; Suppl():1388-9. PubMed ID: 691365
[No Abstract] [Full Text] [Related]
9. Allogeneic bone marrow transplantation for Niemann-Pick disease (type IA).
Bayever E; August CS; Kamani N; Ferreira P; Wenger D; Krivit W
Bone Marrow Transplant; 1992; 10 Suppl 1():85-6. PubMed ID: 1521097
[No Abstract] [Full Text] [Related]
10. Niemann-Pick disease: ultrastructural features.
Shanthi P; Varma N; Marwaha RK
Indian Pediatr; 2000 Sep; 37(9):1017-20. PubMed ID: 10992342
[No Abstract] [Full Text] [Related]
11. 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]
12. Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
Schuchman EH
Hum Mutat; 1995; 6(4):352-4. PubMed ID: 8680412
[No Abstract] [Full Text] [Related]
13. Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B.
Candoni A; Doretto P; Bembi B
Haematologica; 2001 Aug; 86(8):896. PubMed ID: 11524264
[No Abstract] [Full Text] [Related]
14. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.
Vanier MT
Wien Klin Wochenschr; 1997 Feb; 109(3):68-73. PubMed ID: 9060145
[TBL] [Abstract][Full Text] [Related]
15. Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.
Yamamoto T; Feng JH; Higaki K; Taniguchi M; Nanba E; Ninomiya H; Ohno K
Brain Dev; 2004 Jun; 26(4):245-50. PubMed ID: 15130691
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Niemann-Pick disease and Down's disease in children from the same family].
Ritsner MS; Tsil'man AA; Geller VL
Zh Nevropatol Psikhiatr Im S S Korsakova; 1980; 80(7):1051-4. PubMed ID: 6447979
[No Abstract] [Full Text] [Related]
18. 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]
19. Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.
Vellodi A; Hobbs JR; O'Donnell NM; Coulter BS; Hugh-Jones K
Br Med J (Clin Res Ed); 1987 Nov; 295(6610):1375-6. PubMed ID: 3121020
[TBL] [Abstract][Full Text] [Related]
20. [A case of Niemann-Pick disease type C with narcolepsy syndrome].
Miyake S; Inoue H; Ohtahara S; Okada S; Yamano T
Rinsho Shinkeigaku; 1983 Jan; 23(1):44-52. PubMed ID: 6851353
[No Abstract] [Full Text] [Related]
[Next] [New Search]
