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260 related items for PubMed ID: 18279815
1. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R. Transl Res; 2008 Mar; 151(3):162-7. PubMed ID: 18279815 [Abstract] [Full Text] [Related]
2. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population. Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R. Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510 [Abstract] [Full Text] [Related]
3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Jensen HK. Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167 [Abstract] [Full Text] [Related]
5. [Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population]. Ejarque I, Real JT, Chaves FJ, Blesa S, González V, Milian E, Ascaso JF, Priego MA, Carmena R. Med Clin (Barc); 2004 Oct 09; 123(12):456-9. PubMed ID: 15498441 [Abstract] [Full Text] [Related]
6. VLDL and IDL apolipoprotein B-100 kinetics in familial hypercholesterolemia due to impaired LDL receptor function or to defective apolipoprotein B-100. Zulewski H, Ninnis R, Miserez AR, Baumstark MW, Keller U. J Lipid Res; 1998 Feb 09; 39(2):380-7. PubMed ID: 9507998 [Abstract] [Full Text] [Related]
7. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ. Arterioscler Thromb Vasc Biol; 1997 May 09; 17(5):826-33. PubMed ID: 9157944 [Abstract] [Full Text] [Related]
9. [Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. Ejarque I, Civer M, Francisco Ascaso J, Knecht E, Eugenia Armengod M, Carmen R, Tomás Real J, Francisco Chaves J, Javier Martín De Llano J. Med Clin (Barc); 2001 Feb 03; 116(4):138-41. PubMed ID: 11222161 [Abstract] [Full Text] [Related]
10. Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred. Davignon J, Dufour R, Roy M, Bétard C, Ma Y, Ouellette S, Boulet L, Lussier-Cacan S. Eur J Epidemiol; 1992 May 03; 8 Suppl 1():10-7. PubMed ID: 1505645 [Abstract] [Full Text] [Related]
14. Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program. Raal FJ, Bahassi EM, Stevens B, Turner TA, Stein EA. Arterioscler Thromb Vasc Biol; 2020 Nov 03; 40(11):2747-2755. PubMed ID: 32878475 [Abstract] [Full Text] [Related]
15. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores. Miserez AR, Martin FJ, Spirk D. Atherosclerosis; 2018 Oct 03; 277():282-288. PubMed ID: 30270060 [Abstract] [Full Text] [Related]
16. Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. Tai ES, Koay ES, Chan E, Seng TJ, Loh LM, Sethi SK, Tan CE. Clin Chem; 2001 Mar 03; 47(3):438-43. PubMed ID: 11238294 [Abstract] [Full Text] [Related]
17. Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? Gasparovic J, Basistová Z, Fábryová L, Wsólová L, Vohnout B, Raslová K, Slovak MED PED FH group. Atherosclerosis; 2007 Oct 03; 194(2):e95-107. PubMed ID: 17194460 [Abstract] [Full Text] [Related]
18. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, Ros E, Pocoví M, Mata P. Atherosclerosis; 2002 Nov 03; 165(1):127-35. PubMed ID: 12208478 [Abstract] [Full Text] [Related]
19. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. Haddad L, Day IN, Hunt S, Williams RR, Humphries SE, Hopkins PN. J Lipid Res; 1999 Jun 03; 40(6):1113-22. PubMed ID: 10357843 [Abstract] [Full Text] [Related]
20. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. Rubinsztein DC, Raal FJ, Seftel HC, Pilcher G, Coetzee GA, van der Westhuyzen DR. Arterioscler Thromb; 1993 Jul 03; 13(7):1076-81. PubMed ID: 8318509 [Abstract] [Full Text] [Related] Page: [Next] [New Search]