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Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
Kamaşak, Tülay; Havalı, Cengiz; İnce, Hülya; Eyüboğlu, İlker; Çebi, Alper Han; Şahin, Sevim; Cansu, Ali; Aydın, Kürşad (Elsevier Sci Ltd, 2018)Background: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that ...