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1.Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr 2019; 61: 261-266.

2.Tabarki B, Al-Hashem A, Alfadhel M. Biotin-thiamine-responsive basal ganglia disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.

3.Algahtani H, Ghamdi S, Shirah B, Alharbi B, Algahtani R, Bazaid A. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. Neurol Res 2017; 39: 117-125.

4.Savasta S, Bassanese F, Buschini C, et al. Biotin-thiamine responsive encephalopathy: report of an Egyptian family with a novel SLC19A3 mutation and review of the literature. J Pediatr Genet 2019; 8: 100-108.

5.Kamaşak T, Havalı C, İnce H, et al. Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? Eur J Paediatr Neurol 2018; 22: 1139-1149.

6.van der Knaap MS, Kevelam SH. Reply: infantile leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 2014; 137(Pt 9): e296.

7.Flønes I, Sztromwasser P, Haugarvoll K, et al. Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLoS One 2016; 11: e0149055.

8.Tabarki B, Alfadhel M, AlShahwan S, Hundallah K, AlShafi S, AlHashem A. Treatment of biotin-responsive basal ganglia disease: open comparative study between the combination of biotin plus thiamine versus thiamine alone. Eur J Paediatr Neurol 2015; 19: 547-552.

9.Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121(Pt 7): 1267-1279.

10.Kassem H, Wafaie A, Alsuhibani S, Farid T. Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. AJNR Am J Neuroradiol 2014; 35: 1990-1995.

11.Alfadhel M, Almuntashri M, Jadah RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 2013; 8: 83.

12.Gerards M, Kamps R, van Oevelen J, et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain 2013; 136(Pt 3): 882-890.

13.Ortigoza-Escobar JD, Serrano M, Molero M, et al. Thiamine transporter-2 deficiency: outcome and treatment monitoring. Orphanet J Rare Dis 2014; 9: 92.