232 related articles for article (PubMed ID: 1817036)
1. Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.
Vanier MT; Rodriguez-Lafrasse C; Rousson R; Duthel S; Harzer K; Pentchev PG; Revol A; Louisot P
Dev Neurosci; 1991; 13(4-5):307-14. PubMed ID: 1817036
[TBL] [Abstract][Full Text] [Related]
2. Niemann-Pick disease type C: an update.
Vanier MT; Pentchev P; Rodriguez-Lafrasse C; Rousson R
J Inherit Metab Dis; 1991; 14(4):580-95. PubMed ID: 1749223
[TBL] [Abstract][Full Text] [Related]
3. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.
Vanier MT; Rodriguez-Lafrasse C; Rousson R; Gazzah N; Juge MC; Pentchev PG; Revol A; Louisot P
Biochim Biophys Acta; 1991 Jun; 1096(4):328-37. PubMed ID: 2065104
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
Steinberg SJ; Ward CP; Fensom AH
J Med Genet; 1994 Apr; 31(4):317-20. PubMed ID: 8071958
[TBL] [Abstract][Full Text] [Related]
6. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.
Vanier MT; Wenger DA; Comly ME; Rousson R; Brady RO; Pentchev PG
Clin Genet; 1988 May; 33(5):331-48. PubMed ID: 3378364
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Niemann-Pick; type C.
Patterson MC; Pentchev PG
Neurology; 1996 Jun; 46(6):1785-6. PubMed ID: 8649605
[No Abstract] [Full Text] [Related]
9. Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.
Vanier MT; Rodriguez-Lafrasse C; Rousson R; Mandon G; Boué J; Choiset A; Peyrat MF; Dumontel C; Juge MC; Pentchev PG
Am J Hum Genet; 1992 Jul; 51(1):111-22. PubMed ID: 1609791
[TBL] [Abstract][Full Text] [Related]
10. Metabolic abnormalities in feline Niemann-Pick type C heterozygotes.
Brown DE; Thrall MA; Walkley SU; Wurzelmann S; Wenger DA; Allison RW; Just CA
J Inherit Metab Dis; 1996; 19(3):319-30. PubMed ID: 8803775
[TBL] [Abstract][Full Text] [Related]
11. Niemann-Pick disease.
Elleder M
Pathol Res Pract; 1989 Sep; 185(3):293-328. PubMed ID: 2682573
[TBL] [Abstract][Full Text] [Related]
12. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
Vanier MT; Duthel S; Rodriguez-Lafrasse C; Pentchev P; Carstea ED
Am J Hum Genet; 1996 Jan; 58(1):118-25. PubMed ID: 8554047
[TBL] [Abstract][Full Text] [Related]
13. Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport.
Roff CF; Goldin E; Comly ME; Cooney A; Brown A; Vanier MT; Miller SP; Brady RO; Pentchev PG
Dev Neurosci; 1991; 13(4-5):315-9. PubMed ID: 1817037
[TBL] [Abstract][Full Text] [Related]
14. Cultured fibroblasts from patients with Niemann-Pick disease type C and type D exhibit distinct defects in cholesterol esterification.
Sidhu HS; Rastogi SA; Byers DM; Cook HW; Palmer FB; Spence MW
Biochim Biophys Acta; 1992 Feb; 1124(1):29-35. PubMed ID: 1543723
[TBL] [Abstract][Full Text] [Related]
15. Filipin test for diagnosis of Niemann-Pick disease type C.
Ledvinová J; Elleder M
Sb Lek; 1993; 94(2):137-43. PubMed ID: 7992006
[TBL] [Abstract][Full Text] [Related]
16. [A case of type C Niemann-Pick disease].
Hashimoto K; Koeda T; Matsubara K; Ohta S; Ohno K; Ohmura K
No To Hattatsu; 1990 Jul; 22(4):381-5. PubMed ID: 2400614
[TBL] [Abstract][Full Text] [Related]
17. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.
Sokol J; Blanchette-Mackie J; Kruth HS; Dwyer NK; Amende LM; Butler JD; Robinson E; Patel S; Brady RO; Comly ME
J Biol Chem; 1988 Mar; 263(7):3411-7. PubMed ID: 3277970
[TBL] [Abstract][Full Text] [Related]
18. Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.
Butler JD; Comly ME; Kruth HS; Vanier M; Filling-Katz M; Fink J; Barton N; Weintroub H; Quirk JM; Tokoro T
Proc Natl Acad Sci U S A; 1987 Jan; 84(2):556-60. PubMed ID: 3540969
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol.
Roff CF; Goldin E; Comly ME; Blanchette-Mackie J; Cooney A; Brady RO; Pentchev PG
Am J Med Genet; 1992 Feb; 42(4):593-8. PubMed ID: 1609841
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
