Condition: Basal ganglia disease, biotin-responsive


rs121917882 in SLC19A3 gene and Basal ganglia disease, biotin-responsive PMID 15871139 2005 Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 26863430 2016 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

PMID 24957181 2014 Thiamine transporter-2 deficiency: outcome and treatment monitoring.

PMID 26657515 2016 Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

PMID 20065143 2010 Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

PMID 23482991 2013 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

PMID 27896110 2014 Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.