These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 8071958)

  • 1. 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]  

  • 2. Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.
    Besley GT; Hoogeboom AJ; Hoogeveen A; Kleijer WJ; Galjaard H
    Hum Genet; 1980; 54(3):409-12. PubMed ID: 6249719
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Studies on the activation of sphingomyelinase activity in Niemann-Pick type A, B, and C fibroblasts: enzymological differentiation of types A and B.
    Poulos A; Ranieri E; Shankaran P; Callahan JW
    Pediatr Res; 1984 Nov; 18(11):1088-93. PubMed ID: 6096798
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Niemann-Pick; type C.
    Patterson MC; Pentchev PG
    Neurology; 1996 Jun; 46(6):1785-6. PubMed ID: 8649605
    [No Abstract]   [Full Text] [Related]  

  • 8. Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media.
    Thomas GH; Tuck-Muller CM; Miller CS; Reynolds LW
    J Inherit Metab Dis; 1989; 12(2):139-51. PubMed ID: 2547109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases.
    Omura K; Suzuki Y; Norose N; Sato M; Maruyama K; Koeda T
    Brain Dev; 1989; 11(1):57-61. PubMed ID: 2522288
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C.
    Akaboshi S; Yano T; Miyawaki S; Ohno K; Takeshita K
    Hum Genet; 1997 Mar; 99(3):350-3. PubMed ID: 9050921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Effects of dimethylsulfoxide on sphingomyelinase activities in normal and Niemann-Pick type A, B and C fibroblasts.
    Sato M; Yoshida Y; Sakuragawa N; Arima M
    Biochim Biophys Acta; 1988 Sep; 962(1):59-65. PubMed ID: 2843241
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical heterogeneity in a sibship with Niemann-Pick disease type C.
    Yatziv S; Leibovitz-Ben Gershon Z; Ornoy A; Bach G
    Clin Genet; 1983 Feb; 23(2):125-31. PubMed ID: 6839525
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sphingomyelinase enzyme assay in Niemann-Pick disease.
    Kaur M; Das GP; Verma IC
    Indian J Pediatr; 1993; 60(4):583-90. PubMed ID: 8262595
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.
    Suchi M; Dinur T; Desnick RJ; Gatt S; Pereira L; Gilboa E; Schuchman EH
    Proc Natl Acad Sci U S A; 1992 Apr; 89(8):3227-31. PubMed ID: 1565614
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Advances in molecular genetics of the Niemann-Pick group of diseases].
    Ohno K
    Nihon Rinsho; 1993 Sep; 51(9):2293-9. PubMed ID: 8411705
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [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]  

  • 19. Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.
    Steinberg SJ; Mondal D; Fensom AH
    J Inherit Metab Dis; 1996; 19(6):769-74. PubMed ID: 8982950
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Type B Niemann-Pick disease. Clinical aspects].
    Ricca V; Landi M; Calì M; Aimar A; Lala R; Corrias A; Javarone A
    Minerva Pediatr; 1986 Jun; 38(11-12):477-81. PubMed ID: 3736526
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.