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...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Sanamed
المؤلف الرئيسي:	Arsov Todor
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Association of medical doctors Sanamed Novi Pazar 2016-07-01
الموضوعات:	GLUT-1 deficiency De Vivo disease SLC2A1 epilepsy idiopathic generalised epilepsy paroxysmal exertional dyskinesia hypoglycorrachia
الوصول للمادة أونلاين:	http://www.sanamed.rs/OJS/index.php/Sanamed/article/view/128/61