Yazar "32600842" için listeleme
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Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
Kilic, Betul; Topcu, Yasemin; Dursuna, Siar; Erol, Ilknur; Dolu, Merve Hilal; Tasdemir, Haydar Ali; Aydin, Kursad (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: ...