| 1 |
35532649 | Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia. | 2022 Mar-Apr |
1 |
| 2 |
34220059 | Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder. | 2021 Mar-Apr |
1 |
| 3 |
34631424 | Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis. | 2021 Dec |
1 |
| 4 |
32034746 | [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. | 2020 Feb 10 |
2 |
| 5 |
33108098 | Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin? | 2020 |
1 |
| 6 |
31061755 | Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. | 2019 Jun |
2 |
| 7 |
29101630 | Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. | 2018 Feb |
1 |
| 8 |
30054086 | Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? | 2018 Nov |
1 |
| 9 |
27905264 | Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. | 2017 Feb |
1 |
| 10 |
28402605 | 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. | 2017 Jun |
2 |
| 11 |
28677371 | Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. | 2017 |
1 |
| 12 |
28696212 | Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. | 2017 Nov |
2 |
| 13 |
29123435 | Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review. | 2017 |
1 |
| 14 |
26863430 | Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. | 2016 |
2 |
| 15 |
24166474 | Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. | 2014 |
1 |
| 16 |
24372704 | Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. | 2014 Apr |
3 |
| 17 |
24789339 | Defects of thiamine transport and metabolism. | 2014 Jul |
1 |
| 18 |
24957181 | Thiamine transporter-2 deficiency: outcome and treatment monitoring. | 2014 Jun 23 |
2 |
| 19 |
27896110 | Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. | 2014 |
2 |
| 20 |
23423671 | Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. | 2013 Mar |
1 |
| 21 |
24099834 | Treatable Leigh-like encephalopathy presenting in adolescence. | 2013 Oct 7 |
1 |
| 22 |
20065143 | Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. | 2010 Jan |
1 |
| 23 |
21176162 | A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. | 2010 Dec 22 |
1 |
| 24 |
16790503 | Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. | 2006 Nov |
6 |
| 25 |
15871139 | Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. | 2005 Jul |
1 |