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Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.

Brain & development - 1 Sept 2020

Kılıç Betül, Topçu Yasemin, Dursun Şiar, Erol İlknur, Dolu Merve Hilal, Taşdemir Haydar Ali, Aydın Kürşad

Abstract excerpt

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: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. RESULTS:...

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PMID: 32600842
DOI: 10.1016/j.braindev.2020.05.008

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