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11. Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel Savasta S; Bassanese F; Buschini C; Foiadelli T; Trabatti C; Efthymiou S; Salpietro V; Houlden H; Simoncelli A; Marseglia GL J Pediatr Genet; 2019 Jun; 8(2):100-108. PubMed ID: 31061755 [TBL] [Abstract][Full Text] [Related]
12. Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging. Huang H; Jiang H; Yang M; Gao Y; Cao L Int J Neurosci; 2024 Jun; 134(2):184-192. PubMed ID: 35775132 [No Abstract] [Full Text] [Related]
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14. Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. Kohrogi K; Imagawa E; Muto Y; Hirai K; Migita M; Mitsubuchi H; Miyake N; Matsumoto N; Nakamura K; Endo F J Hum Genet; 2015 Jul; 60(7):381-5. PubMed ID: 25876998 [TBL] [Abstract][Full Text] [Related]
15. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. Gowda VK; Srinivasan VM; Bhat M; Benakappa N Indian J Pediatr; 2018 Feb; 85(2):155-157. PubMed ID: 29101630 [TBL] [Abstract][Full Text] [Related]
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17. Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. Pronicki M; Piekutowska-Abramczuk D; Jurkiewicz E; Rokicki D; Ciara E; Trubicka J; Iwanicka-Pronicka K; Pajdowska M; Migdał M; Grajkowska WA Folia Neuropathol; 2017; 55(2):146-153. PubMed ID: 28677371 [No Abstract] [Full Text] [Related]
18. Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data. Ferreira CR; Whitehead MT; Leon E Am J Med Genet A; 2017 Jun; 173(6):1502-1513. PubMed ID: 28402605 [TBL] [Abstract][Full Text] [Related]
19. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Değerliyurt A; Gündüz M; Ceylaner S; Ünal Ö; Ünal S Turk J Pediatr; 2019; 61(2):261-266. PubMed ID: 31951338 [TBL] [Abstract][Full Text] [Related]