PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34631424-1 2021 Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. Biotin 12-18 solute carrier family 19 member 3 Homo sapiens 158-165 35532649-1 2022 Background and Aims: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder due to mutations in the SLC19A3-gene, typically seen in early childhood. Biotin 21-27 solute carrier family 19 member 3 Homo sapiens 137-144 34220059-1 2021 Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 171-178 32034746-0 2020 [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. Biotin 72-78 solute carrier family 19 member 3 Homo sapiens 29-36 32034746-10 2020 Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease. Biotin 76-82 solute carrier family 19 member 3 Homo sapiens 52-59 29101630-1 2018 Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 139-146 33108098-0 2020 Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin? Biotin 60-66 solute carrier family 19 member 3 Homo sapiens 15-22 31061755-0 2019 Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 85-92 31061755-1 2019 Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 177-184 30054086-1 2018 BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. Biotin 12-18 solute carrier family 19 member 3 Homo sapiens 131-138 27905264-1 2017 BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. Biotin 12-18 solute carrier family 19 member 3 Homo sapiens 146-153 28696212-0 2017 Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Biotin 88-94 solute carrier family 19 member 3 Homo sapiens 22-29 28696212-1 2017 Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). Biotin 98-104 solute carrier family 19 member 3 Homo sapiens 22-29 29123435-3 2017 We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. Biotin 143-149 solute carrier family 19 member 3 Homo sapiens 47-54 28402605-0 2017 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. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 125-132 28402605-1 2017 Biotin-thiamine responsive basal ganglia disease is an inborn error of metabolism caused by mutations in SLC19A3, encoding a transporter of thiamine across the plasma membrane. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 105-112 28677371-0 2017 Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. Biotin 101-107 solute carrier family 19 member 3 Homo sapiens 68-75 26863430-0 2016 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. Biotin 57-63 solute carrier family 19 member 3 Homo sapiens 6-13 26863430-1 2016 BACKGROUND: Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Biotin 12-18 solute carrier family 19 member 3 Homo sapiens 136-143 24789339-3 2014 Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-responsive megaloblastic anaemia and biotin-responsive basal ganglia disease respectively. Biotin 150-156 solute carrier family 19 member 3 Homo sapiens 62-67 27896110-0 2014 Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. Biotin 82-88 solute carrier family 19 member 3 Homo sapiens 66-73 27896110-1 2014 Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 114-121 23423671-14 2013 Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin. Biotin 156-162 solute carrier family 19 member 3 Homo sapiens 20-27 24166474-1 2014 Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder, which is caused by mutations in the SLC19A3 gene. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 119-126 24099834-2 2013 A rare genetic defect of thiamine transporter-2 may lead to similar clinical features, biotin-thiamine responsive basal ganglia disease (BTBGD). Biotin 87-93 solute carrier family 19 member 3 Homo sapiens 25-47 24957181-2 2014 METHODS: We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia disease phenotypes. Biotin 61-67 solute carrier family 19 member 3 Homo sapiens 106-111 24957181-2 2014 METHODS: We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia disease phenotypes. Biotin 149-155 solute carrier family 19 member 3 Homo sapiens 106-111 24372704-0 2014 Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. Biotin 54-60 solute carrier family 19 member 3 Homo sapiens 31-38 24372704-1 2014 Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a potentially treatable disorder caused by mutations in the SLC19A3 gene, encoding the human thiamine transporter 2. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 120-127 24372704-1 2014 Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a potentially treatable disorder caused by mutations in the SLC19A3 gene, encoding the human thiamine transporter 2. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 153-175 16790503-0 2006 Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 88-94 16790503-0 2006 Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Biotin 96-102 solute carrier family 19 member 3 Homo sapiens 88-94 16790503-4 2006 Recently, two hTHTR2 mutants (G23V, T422A) have been discovered in clinical kindreds manifesting biotin-responsive basal ganglia disease (BBGD): the symptoms of which are alleviated by biotin administration. Biotin 97-103 solute carrier family 19 member 3 Homo sapiens 14-20 16790503-4 2006 Recently, two hTHTR2 mutants (G23V, T422A) have been discovered in clinical kindreds manifesting biotin-responsive basal ganglia disease (BBGD): the symptoms of which are alleviated by biotin administration. Biotin 185-191 solute carrier family 19 member 3 Homo sapiens 14-20 16790503-8 2006 Furthermore, biotin accumulation was not detectable in cells overexpressing either the full length hTHTR2 or the clinically relevant hTHTR2 mutants, yet was demonstrable in the same assay using cells overexpressing the human sodium-dependent multivitamin transporter, a known biotin transporter. Biotin 13-19 solute carrier family 19 member 3 Homo sapiens 99-105 16790503-8 2006 Furthermore, biotin accumulation was not detectable in cells overexpressing either the full length hTHTR2 or the clinically relevant hTHTR2 mutants, yet was demonstrable in the same assay using cells overexpressing the human sodium-dependent multivitamin transporter, a known biotin transporter. Biotin 13-19 solute carrier family 19 member 3 Homo sapiens 133-139 21176162-8 2010 CONCLUSION: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments. Biotin 140-146 solute carrier family 19 member 3 Homo sapiens 83-90 20065143-0 2010 Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 71-78 15871139-0 2005 Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Biotin 0-6 solute carrier family 19 member 3 Homo sapiens 82-89