Please use this identifier to cite or link to this item:
http://repo.knmu.edu.ua/handle/123456789/7626| Title: | A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorder |
| Authors: | Kvitchataya, Nataliya Grechanina, Juliya Yanovska, Anna |
| Keywords: | chromosomal abnormalities mitochondrial dysfunction |
| Issue Date: | 2014 |
| Citation: | Kvitchataya N. N. A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorder / N. N. Kvitchataya, Y. B. Grechanina, A. A. Yanovska // Journal of Inherited Metabolic Disease. — 2014. — Vol. 37, suppl. 1 : Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2–5 September, 2014 : abstracts. — P. 184. |
| Abstract: | mitochondrial dysfunction manifestes with multiorganic disorders mainly affecting the central nervous system, heart, liver and muscles. |
| Description: | observation demonstrates the combination of chromosome pathology with metabolic disorders, it is necessary to investigate chromosomal aberrations of metabolic status for the selection of adequate therapy. |
| URI: | https://repo.knmu.edu.ua/handle/123456789/7626 |
| Appears in Collections: | Наукові праці. Кафедра медичної генетики |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Обложка.pdf | Обкладинка | 113,24 kB | Adobe PDF |  View/Open |
| Зміст(3).pdf | Зміст | 126,09 kB | Adobe PDF |  View/Open |
| Тези(4).pdf | Тези | 213,25 kB | Adobe PDF |  View/Open |
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