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Journal Abstract Search

111 related items for PubMed ID: 3450770

  • 1.
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  • 2. Mutations of the low density lipoprotein receptor in familial hypercholesterolemia--analysis of 21 homozygotes.
    Yamamoto A.
    Jpn J Med; 1988 May; 27(2):225-8. PubMed ID: 3418993
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  • 3. Low-density lipoprotein receptor deficiency resulting in familial hypercholesterolaemia in a black man. A follow-up study.
    Coetzee GA, van Wingerden JJ, van der Westhuyzen DR.
    S Afr Med J; 1985 Feb 16; 67(7):259-61. PubMed ID: 3983774
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  • 4. Normalization of low-density lipoprotein receptor expression in receptor defective homozygous familial hypercholesterolemia by inhibition of PCSK9 with alirocumab.
    Lambert G, Chatelais M, Petrides F, Passard M, Thedrez A, Rye KA, Schwahn U, Gusarova V, Blom DJ, Sasiela W, Marais AD.
    J Am Coll Cardiol; 2014 Dec 02; 64(21):2299-300. PubMed ID: 25456764
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  • 5. Familial hypercholesterolemia. Evidence for a newly recognized mutation determining increased fibroblast receptor affinity but decreased capacity for low density lipoprotein in two siblings.
    Ostlund RE, Levy RA, Witztum JL, Schonfeld G.
    J Clin Invest; 1982 Oct 02; 70(4):823-31. PubMed ID: 6288770
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  • 9. Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
    Magaña Torres MT, Mora-Hernández S, Vázquez Cárdenas NA, González Jaimes A.
    J Clin Lipidol; 2014 Oct 02; 8(5):525-7. PubMed ID: 25234566
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  • 11. The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy.
    Goldstein JL, Brown MS.
    Med Clin North Am; 1982 Mar 02; 66(2):335-62. PubMed ID: 6279983
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  • 15. [Low-density lipoprotein receptors].
    Kastelein JJ, ten Cate JW.
    Ned Tijdschr Geneeskd; 1991 Apr 13; 135(15):646-51. PubMed ID: 2038379
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  • 16. [Recent trend in the research of hyperlipidemia in Japan. Three mutations including two deletions of the low density lipoprotein receptor gene in Japanese patients with homozygous familial hypercholesterolemia].
    Funahashi T, Miyake Y, Yamamoto A.
    Nihon Naika Gakkai Zasshi; 1989 Oct 13; 78(10):1406-7. PubMed ID: 2600496
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  • 17. A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
    Miyake Y, Tajima S, Funahashi T, Yamamura T, Yamamoto A.
    Eur J Biochem; 1992 Nov 15; 210(1):1-7. PubMed ID: 1446662
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  • 18. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.
    Bilheimer DW, East C, Grundy SM, Nora JJ.
    Am J Med Genet; 1985 Nov 15; 22(3):593-8. PubMed ID: 4061492
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  • 19. Homozygous familial hypercholesterolemic patients in China.
    Cai HJ, Fan LM, Huang MG, Chen XY, Liu GQ, Chen Q.
    Atherosclerosis; 1985 Nov 15; 57(2-3):303-12. PubMed ID: 4084360
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  • 20. The Low-Density Lipoprotein Receptor Genotype Is a Significant Determinant of the Rebound in Low-Density Lipoprotein Cholesterol Concentration After Lipoprotein Apheresis Among Patients With Homozygous Familial Hypercholesterolemia.
    Drouin-Chartier JP, Tremblay AJ, Bergeron J, Lamarche B, Couture P.
    Circulation; 2017 Aug 29; 136(9):880-882. PubMed ID: 28847800
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