"0"^^ . . "2013-12-31+01:00"^^ . "P\u0159edm\u011Btem \u0159e\u0161en\u00ED projektu je studium molekul\u00E1rn\u00ED patofyziologie alfa-talasemi\u00ED a vrozen\u00FDch hemolytick\u00FDch an\u00E9mi\u00ED nezn\u00E1m\u00E9 etiologie u nemocn\u00FDch z \u010Cesk\u00E9 republiky. V r\u00E1mci projektu pl\u00E1nujeme: 1/ u rodin, kter\u00E9 fenotypov\u011B odpov\u00EDdaj\u00ED talasemii, ale u kter\u00FDch nebyla nalezena beta p\u0159\u00EDp. delta-beta-talasemie, stanovovat pom\u011Br alfa- a beta-globinov\u00FDch \u0159et\u011Bzc\u016F a detekovat nej\u010Dast\u011Bji se vyskytuj\u00EDc\u00ED se delece u alfa-talasemi\u00ED; 2/ u nemocn\u00FDch s korpuskul\u00E1rn\u00ED hemolytickou an\u00E9mi\u00ED nezn\u00E1m\u00E9 etiologie, kter\u00E9 nejsou spojen\u00E9 s hemoglobinopatiemi, methemoglobinemiemi ani membr\u00E1nov\u00FDmi defekty, se zam\u011B\u0159\u00EDme na stanovov\u00E1n\u00ED aktivity vybran\u00FDch enzym\u016F metabolismu \u010Derven\u00FDch krvinek s n\u00E1slednou charakterizac\u00ED zji\u0161t\u011Bn\u00E9 enzymopatie na molekul\u00E1rn\u00ED \u00FArovni."@cs . "5775"^^ . "Molecular-genetic diagnosis of alpha-thalassemias and biochemical and molecular-genetic diagnosis of congenital hemolytic anemias associated with red blood cell enzymopathies"@en . . . "anemia; thalassemia; enzymopathy"@en . . . "1"^^ . . "5775"^^ . "1"^^ . "The aims of the proposed project is the study of the molecular pathophysiology of alpha-thalassemia and congenital hemolytic anemias resulting from enzymopathies of unknown etiology in patients from the Czech Republic. We propose: 1/ to focuse on thalassemia syndromes characterized by aplha- and non-alpha-globin chains ratio as alpha thalassemias to analyze these thalassemias on the molecular-genetic level; 2/ to perform biochemical and molecular-genetic analyses of cases with congenital nonspherocytic hemolytic anemia."@en . "1"^^ . "Molekul\u00E1rn\u011B-genetick\u00E1 charakterizace alfa-talasemi\u00ED a biochemick\u00E1 a molekul\u00E1rn\u011B-genetick\u00E1 charakterizace enzymopati\u00ED zp\u016Fsobuj\u00EDc\u00EDch vrozenou hemolytickou an\u00E9mii"@cs . . . "2010-09-01+01:00"^^ . . . "1"^^ .