Konu "SLC19A3" için Makale Koleksiyonu listeleme
Toplam kayıt 1, listelenen: 1-1
-
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
(Elsevier, 2020)Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: ...