The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over time
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Український інститут клінічної генетики ХНМУ
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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.
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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.