Please use this identifier to cite or link to this item:
http://repo.knmu.edu.ua/handle/123456789/7623| Title: | Fumaric aciduria case |
| Authors: | Kanuka, M. Yanovska, A. Grechanina, Juliya Zdubskaya E. |
| Keywords: | fumaric aciduria metabolism mitochondrial dysfunction hiperammonemia |
| Issue Date: | 2014 |
| Citation: | Fumaric aciduria case / M. V. Kanuka, A. A. Yanovska, Y. B. Grechanina, E. P. Zdubskaya // 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. 112. |
| Abstract: | Fumaric aciduria refers to a mitochondrial disorder, due to lack of fumarase activity, and manifesting as progressive encephalopathy, hypotension, dyspnea, seizures and lactic acidosis. |
| Description: | Acute deterioration of the child after birth with the development of hypotension, cerebral depression, it is necessary to carry out test to exclude congenital defect of metabolism, including mitochondrial dysfunction. |
| URI: | https://repo.knmu.edu.ua/handle/123456789/7623 |
| 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(1).pdf | Зміст | 178,05 kB | Adobe PDF |  View/Open |
| Тези(1).pdf | Тези | 228,23 kB | Adobe PDF |  View/Open |
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