Inadequate intake of folate or its analogues, and the lack of other vitamins before and during pregnancy, are associated with an increased risk of birth defects. Congenital malformations and adverse pregnancy outcomes are a major public health problem as they have a lasting impact on the health and quality of life of the affected children and their parents. Disorders and changes in folate metabolic pathway, which are often the result of genetic polymorphisms, are the most common potential risk factor for the most common congenital malformations, such as congenital heart defects (CHD), orofacial clefts (OFC) and neural tube defects (NTD). The overall goal of the research presented in this thesis was to answer to key topics or known problems, namely the complex analytics of folates in biological samples and the influence of genotypes on folate status, thus contributing to the understanding of the influence of folates on the molecular basis of fetal congenital malformations. To address the importance of folate, its levels need to be monitored, although poor stability and extremely small amounts of folate in biological samples are factors that make the analysis of folate challenging. In the first part of the doctoral thesis, we developed and validated a method that subsequently allowed us to quantify folic acid (FA), the biologically active form of folate, 5-methyltetrahydrofolate (5-Me-THF) and homocysteine (Hcy). We developed a simple, sensitive and fast high performance...
D.09 Tutoring for postgraduate students
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