Please use this identifier to cite or link to this item:
http://repo.knmu.edu.ua/handle/123456789/24827
Title: | The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over time |
Authors: | Grechanina, Elena Grechanina, Juliya Matalon, Reuben Delgado, Listvania Tyring, Stephen |
Keywords: | Canavan disease |
Issue Date: | 4-Jun-2019 |
Publisher: | Український інститут клінічної генетики ХНМУ |
Citation: | The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over time / E. Grechanina, Yu. Grechanina, R. Matalon, L. M. Delgado, S. K. Tyring // Клінічна генетика і перинатальна діагностика. – 2019. – № 1 (6). – С. 53–97. |
Abstract: | Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy. |
URI: | https://repo.knmu.edu.ua/handle/123456789/24827 |
Appears in Collections: | Наукові праці. Кафедра медичної генетики |
Files in This Item:
File | Description | Size | Format | |
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The discoverer of Canavan syndrome gene.pdf | 12,08 MB | Adobe PDF | View/Open |
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