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Information × Registration Number 0222U000965, 0119U000089 , R & D reports Title Appearance of peculiarities of biochemical and genetic characteristics of hereditary metabolic diseases in patients from Ukraine with the purpose of optimization of their early diagnosis popup.stage_title Head Horovenko Nataliia H, Registration Date 22-01-2022 Organization Institute of genetic and regenerative medicine National Acad.Med.Sci. of Ukraine popup.description2 Object of research - hereditary pathology, biochemical and molecular genetic markers. Research methods - clinical, molecular genetic, biochemical, statistical Results. Reference intervals for the concentration of amino acids and acylcarnitines in full-term and premature infants, as well as the gender difference between these reference intervals. To determine the features of the genetic nature of diseases from the SPOAA group in patients from Ukraine, we conducted a molecular genetic analysis of samples of patients whose diagnosis was confirmed on the basis of our developed biochemical criteria. Based on our results of determining the features of biochemical and molecular genetic characteristics of patients with SPOAA, an algorithm for optimal laboratory examination of high-risk patients was developed. The key stages of the diagnostic process are the application of our criteria for differentiation of primary, due to hereditary metabolic disorders, and secondary metabolic disorders in the relevant clinical groups.  Product Description popup.authors Ievseienkova Olena H Brishevats Lyudmila I Buryak Olexander A Zemlyanska Olena V Levkovych Natalia Ye Mytsyk Nataliia Yo Olkhovich Volodymyr P Olkhovych Natalia V. Pichkur Nataliia Oleksandrivna Podolska Svitlana Volodymyrivna Rossokha Zoya Ivanivna Stroy Dmitro О. Tavokina Lyubov V. Trofimova Natalia Sergiivna Fishchuk Liliya Sheiko Larisa P popup.nrat_date 2022-03-09 Close