Disease: Basal ganglia disease- biotin-responsive
- A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
- A Japanese patient with neonatal biotin-responsive basal ganglia disease
- A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
- Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
- Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease
- Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease
- Biotin responsive limb weakness
- Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
- Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism
- Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations
- Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
- Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings
- 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
- Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2
- Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing
- Biotin-responsive basal ganglia disease: a novel entity
- Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood
- Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome
- Biotin-responsive basal ganglia disease: case report and review of the literature
- Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment
- Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia
- Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report
- Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants
- 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-Thiamine-Responsive Basal Ganglia Disease
- Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder
- Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance
- Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment
- Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia
- Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging
- Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review
- Compound heterozygous <em>SLC19A3</em> mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease
- Defects of thiamine transport and metabolism
- Depression in adult patients with biotin responsive basal ganglia disease
- Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors
- High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders
- Movement Disorders in Treatable Inborn Errors of Metabolism
- Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
- Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease
- Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
- Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease
- Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
- Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
- SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review
- Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease
- Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
- Teaching NeuroImages: Biotin-responsive basal ganglia disease
- Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment
- The varied etiologies of childhood-onset dystonia
- Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease
- Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone
- Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement