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  • Molecular-genetic and cellular diagnosis and characterization of hemoglobinopathies, thalassemias and polycythemias in patients from the Czech Republic. Biochemical analysis of the pivotal enzymatic processes, which lead to the elimination of free radicals in selected types of hemoglobin disorders with the signs of oxidative stress in erythroid cells. Analysis of the effectiveness of darbepoetin therapy in the patient with DMT1 mutation using patient's frozen erythroid cells. (en)
  • Molekulárně-genetická diagnostika hemoglobinopatií, talasemií a vrozených polycytémií v České republice. Analýza klíčových enzymatických procesů eliminujících volné radikály u vybraných poruch se známkami oxidačního stresu v erytrocytech. Funkční analýza úspěšnosti léčby nemocného s vrozenou poruchou transportu iontů železa v erytroidních buňkách.
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  • Molecular pathophysiology of congenital defects of red blood cell production (en)
  • Molekulární patofyziologie vybraných vrozených poruch erytropoézy
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  • NS9935
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  • anemia; polycythemia; hemoglobin; thalassemia; oxidative stress; DMT1; EPOR; hemolysis (en)
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  • Odhalení molekulární podstaty vzniku různých poruch erytropoezy u nemocných z ČR přispělo k pochopení patofyziologie těchto chorob a ovlivnilo i terapeutické postupy u některých pacientů. Významné byly tři výstupy - publikace, dvě v časopise s IF. (cs)
  • Authors characterized on a molecular level several congenital defects of erythropoiesis in the patients from Czech Rep. Their results lead to improved therapy of these patients and provided new insights into molecular pathophysiology of erythropoiesis. (en)
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  • anemia
  • hemoglobin
  • oxidative stress
  • DMT1
  • EPOR
  • polycythemia
  • thalassemia
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