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Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
Kılıç, Betül; Topçu, Yasemin; Dursun, Şiar; Erol, İlknur; Dolu, Merve Hilal; Taşdemir, Haydar Ali; Aydın, Kürşad (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: ...