Zobrazeno 1 - 10
of 23
pro vyhledávání: '"N. V. Olkhovych"'
Autor:
S. V. Kushnirenko, N. V. Olkhovych
Publikováno v:
Український журнал Перинатологія і педіатрія, Iss 3(79), Pp 20-25 (2019)
Мета — вивчення метаболомічних основ прогресування хронічної хвороби нирок (ХХН) у дітей на підставі дослідження карнітинового статус
Externí odkaz:
https://doaj.org/article/599b1284879c459da1148d80841b9f36
Autor:
S. V. Kushnirenko, N. V. Olkhovych
Publikováno v:
Сучасна педіатрія: Україна, Iss 5(101), Pp 31-37 (2019)
Мета: вивчити вплив метаболічної терапії левокарнітином на карнітиновий статус, метаболомічний профіль амінокислот і функціональний с
Externí odkaz:
https://doaj.org/article/3352aefb2aec4ccc86a2b2674cdd3c1a
Autor:
N. V. Olkhovych, N. G. Gorovenko
Publikováno v:
The Ukrainian Biochemical Journal, Vol 88, Iss 5, Pp 96-106 (2016)
The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activity in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in ca
Externí odkaz:
https://doaj.org/article/ed52bbc9857244c9ac22dc63e4f96793
Autor:
N. V. Olkhovych
Publikováno v:
The Ukrainian Biochemical Journal, Vol 88, Iss 1, Pp 69-78 (2016)
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is t
Externí odkaz:
https://doaj.org/article/0b465a1f4e0847ca8dd40a9142eb03e1
Publikováno v:
The Ukrainian Biochemical Journal, Vol 87, Iss 3, Pp 107-115 (2015)
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete fai
Externí odkaz:
https://doaj.org/article/18551673abcf4fc7b66bc245d4b33cde
Autor:
V. Z. Stetsyuk, A. Y. Savytskyi, T. P. Ivanova, N. V. Olkhovych, S. P. Kyryachenko, A. O. Horbenko, R. H. Kovtunovych
Publikováno v:
Medična Informatika ta Inženerìâ, Vol 0, Iss 3 (2015)
In the laboratory of medical genetics NCSH «OKHMATDYT» to identify the reliability of laboratory results and control the number and frequency of errors, carry out internal quality control. In order to evaluate the results of measurements of samples
Externí odkaz:
https://doaj.org/article/b1120619e6b9487c8b2ef8e19776188a
Publikováno v:
Неонатологія, хірургія та перинатальна медицина, Vol 5, Iss 3(17) (2015)
Cтаття присвячена вивченню впливу генетичного поліморфізму на особливості фолатного обміну та антиоксидантного захисту у новонародже
Externí odkaz:
https://doaj.org/article/f4948b60332e481faf261ec6d94bc79f
Publikováno v:
CHILD`S HEALTH. 12:788-796
Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its main clinical and laboratory characteristics based on the results of laboratory and instrumental studies that allow to select such patients into the sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::771c2a08864789c03b88ad64d2e2de7e
https://doi.org/10.22141/2224-0551.12.7.2017.116184
https://doi.org/10.22141/2224-0551.12.7.2017.116184
Publikováno v:
Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv. 16:12-19
Aim. Implementation of neonatal screening of the group of severe inherited disorders of amino acids, fatty and organic acids metabolism in Ukraine involves determination of the biological variation of amino acids and acylcarnitines level in the blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12541583d2fe94358a2f2ffe196327e1
https://doi.org/10.7124/visnyk.utgis.16.1.898
https://doi.org/10.7124/visnyk.utgis.16.1.898
Publikováno v:
Cytology and Genetics. 52:198-203
During 2011–2016, selective screening of hereditary disorders of amino acid and acylcarnitines metabolism identified six patients with a set of clinical symptoms and biochemical markers, which indicated a high probability of one of the two heredita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76ba6e3675800c2b1eddf54d79372d3e
https://doi.org/10.3103/s0095452718030027
https://doi.org/10.3103/s0095452718030027