The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over time
Date
2019-06-04
Authors
Grechanina, Elena
Grechanina, Juliya
Matalon, Reuben
Delgado, Listvania
Tyring, Stephen
Journal Title
Journal ISSN
Volume Title
Publisher
Український інститут клінічної генетики ХНМУ
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.
Description
Keywords
Canavan disease
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.