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26. 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]
27. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Nyhan WL; McGowan K; Barshop BA Clin Chim Acta; 2019 Dec; 499():13-15. PubMed ID: 31404531 [TBL] [Abstract][Full Text] [Related]
28. SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. Alfadhel M; Tabarki B Neuropediatrics; 2018 Apr; 49(2):83-92. PubMed ID: 28962040 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder. Saini AG; Sharma S Ann Indian Acad Neurol; 2021; 24(2):173-177. PubMed ID: 34220059 [TBL] [Abstract][Full Text] [Related]
31. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Subramanian VS; Marchant JS; Said HM Am J Physiol Cell Physiol; 2006 Nov; 291(5):C851-9. PubMed ID: 16790503 [TBL] [Abstract][Full Text] [Related]
32. Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin? Finsterer J Turk J Pediatr; 2020; 62(5):893-896. PubMed ID: 33108098 [No Abstract] [Full Text] [Related]
33. [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. Gao M; Huang Y; Zhang K; Lyu Y; Dong R; Ma J; Wang D; Gai Z; Liu Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):162-165. PubMed ID: 32034746 [TBL] [Abstract][Full Text] [Related]
34. Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. Bin Saeedan M; Dogar MA Neurology; 2016 Feb; 86(7):e71-2. PubMed ID: 26880816 [No Abstract] [Full Text] [Related]
35. Biotin-responsive basal ganglia disease: a novel entity. Ozand PT; Gascon GG; Al Essa M; Joshi S; Al Jishi E; Bakheet S; Al Watban J; Al-Kawi MZ; Dabbagh O Brain; 1998 Jul; 121 ( Pt 7)():1267-79. PubMed ID: 9679779 [TBL] [Abstract][Full Text] [Related]
36. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Zeng WQ; Al-Yamani E; Acierno JS; Slaugenhaupt S; Gillis T; MacDonald ME; Ozand PT; Gusella JF Am J Hum Genet; 2005 Jul; 77(1):16-26. PubMed ID: 15871139 [TBL] [Abstract][Full Text] [Related]