About: Phenotype Genotype Correlation in Children and Adolescents with Heterozygous Familial Hypercholesterolemia     Goto   Sponge   NotDistinct   Permalink

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  • 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)
  • Projektu sleduje korelaci genotypu a fenotypu familiární hypercholesterolemie u dětí a adolescentů. Genotyp je charakterozován genovými mutacemi apoB a LDL cholesterolových receptorů event. typizací apoE alel, jak byly nalezeny v projektu MED PED. Fenotyp je charakterizován laboratorním lipidovým spektrem, metabolity endogenní syntezy cholesterolu, individuální cholesterolu tolerancí v potravě, ultrasonografickým vyšetřením tloušťky intima media karotid, markery endotheliální dysfunkce. Cílem projektu je vyhodnotit efektivitu markerů určujících skutečné riziko poškození dětí a adolescentů s geneticky prokázanou fam.hypercholesterolemií a ulehčit rozhodování pro volbu dietní či medikamentosní léčby.
Title
  • Phenotype Genotype Correlation in Children and Adolescents with Heterozygous Familial Hypercholesterolemia (en)
  • Korelace genotypu a fenotypu familiární hypercholesterolemie u dětí a adolescentů
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  • NA7452
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  • familial hypercholesterolemia;genotype-phenotype correlation;indiv cholesterol tolerance;endogenous cholesterol synthes;dietary and drug tratment;intima media thickneyss;cholesterologensis (en)
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  • U 160 dětí s familární hypercholesterolemií(FH) byly stanoveny necholesterolové steroly(lathosterol,desmosterol,kampesterol a sitosterol) protože jsou užitečné pro diferenciální diagnosu FH a efektivní monitorování dietní či medikamentosní léčby. (cs)
  • In 160 children with familial hypercholesterolemia(FH) noncholesterol sterols esp.lathosterol,desmosterol,campesterol and sitosterol were followed.They are useful for differential diagnosis and effective monitoring of dietary and drug treatment of FH. (en)
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  • familial hypercholesterolemia
  • dietary and drug tratment
  • endogenous cholesterol synthes
  • genotype-phenotype correlation
  • indiv cholesterol tolerance
  • intima media thickneyss
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