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
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Head
Horovenko Nataliia H,
Registration Date
22-01-2022
Organization
Institute of genetic and regenerative medicine National Acad.Med.Sci. of Ukraine
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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
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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
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2022-03-09
