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Congenital disorders of metabolism - etiology, pathogenesis, screening
Soukupová, Kateřina ; Kudláčková, Zděnka (advisor) ; Klusoňová, Hana (referee)
Author: Kateřina Soukupová Title: Inborn errors of metabolism - aetiology, pathogenesis, screening. Bachelor Thesis Charles University in Prague Faculty of Pharmacy in Hradec Králové Study field: Health bioanalysis The Target: The aim of this thesis is to research the available expertise on congenital disorders of inborn metabolism errors and survey of public awareness on this issue, mainly the screening of newborns after birth, in relation to these diseases and through a questionnaire. Methodology: To achieve results, the quantitative research in period from 09.05.2010 to 01.06.2010 was used. The research was conducted by anonymous questionnaires on the web server http://www.vyplnto.cz/realizovane-pruzkumy/novorozenecky-screening and at the same time in private gynaecological surgery of MUDr. Tomáš Vychodil, the pregnancy clinic, Tabor, in the period from 20.05.2010 to 27.05.2010. Hypothesis: The main pillar of this work was to take a position to clear hypotheses. Hypothesis 1 - Public awareness of the testing of newborns screening is small. Hypothesis 2 - Informing expecting mothers by the doctors is inadequate, given the importance of testing. Hypothesis 3 - Willingness to participate financially in medical check-up is small as for the society and pregnant mothers. Results: The research results...
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