GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM

The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease) was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy) and movement disorders. The biochemical parameters of this dis...

Полное описание

Библиографические подробности

Главный автор:	Arsov Todor
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Association of medical doctors Sanamed Novi Pazar 2016-07-01
Серии:	Sanamed
Предметы:	GLUT-1 deficiency De Vivo disease SLC2A1 epilepsy idiopathic generalised epilepsy paroxysmal exertional dyskinesia hypoglycorrachia
Online-ссылка:	http://www.sanamed.rs/OJS/index.php/Sanamed/article/view/128/61
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!