"1"^^ . . "4635"^^ . "The correlation of genotype with phenotype in children suffering from fam.hypercholesterolemia will be studied. Genotype is characterized by lo most common gene mutations for apoB, LDL-cholest.receptors, apoE allels. Phenotype will be characterized by lipid spectrum, metabolites of endogenous cholest.synthesis, individual cholesterol tolerance, SONO measurement of IMT, markers of endoth.dysfunction and effectiveness of dietary or drug treatment. The goal: to detect the frequency of typical gene mutation for LDL receptors in high risk population of children. To evaluate the efficiency of markers for early vascular damage. To help in decision for introducing of drug treatment in children and adole"@en . . "5395"^^ . "Projektu sleduje korelaci genotypu a fenotypu famili\u00E1rn\u00ED hypercholesterolemie u d\u011Bt\u00ED a adolescent\u016F. Genotyp je charakterozov\u00E1n genov\u00FDmi mutacemi apoB a LDL cholesterolov\u00FDch receptor\u016F event. typizac\u00ED apoE alel, jak byly nalezeny v projektu MED PED. Fenotyp je charakterizov\u00E1n laboratorn\u00EDm lipidov\u00FDm spektrem, metabolity endogenn\u00ED syntezy cholesterolu, individu\u00E1ln\u00ED cholesterolu toleranc\u00ED v potrav\u011B, ultrasonografick\u00FDm vy\u0161et\u0159en\u00EDm tlou\u0161\u0165ky intima media karotid, markery endotheli\u00E1ln\u00ED dysfunkce. C\u00EDlem projektu je vyhodnotit efektivitu marker\u016F ur\u010Duj\u00EDc\u00EDch skute\u010Dn\u00E9 riziko po\u0161kozen\u00ED d\u011Bt\u00ED a adolescent\u016F s geneticky prok\u00E1zanou fam.hypercholesterolemi\u00ED a uleh\u010Dit rozhodov\u00E1n\u00ED pro volbu dietn\u00ED \u010Di medikamentosn\u00ED l\u00E9\u010Dby."@cs . . . . "familial hypercholesterolemia;genotype-phenotype correlation;indiv cholesterol tolerance;endogenous cholesterol synthes;dietary and drug tratment;intima media thickneyss;cholesterologensis"@en . "Phenotype Genotype Correlation in Children and Adolescents with Heterozygous Familial Hypercholesterolemia"@en . . "Korelace genotypu a fenotypu famili\u00E1rn\u00ED hypercholesterolemie u d\u011Bt\u00ED a adolescent\u016F"@cs . . . "0"^^ . "1"^^ . . "0"^^ . "1"^^ .