Associated Papers
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M et al.
Orphanet Journal of Rare Diseases, 2023
SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.
O'Brien NL et al.
Alcohol and Alcoholism (oxford, Oxfordshire), 2022
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M et al.
Annals of Clinical and Translational Neurology, 2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M et al.
Neuropediatrics, 2018
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W et al.
Cold Spring Harbor Molecular Case Studies, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 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.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2017
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
Imagawa E et al.
Clinical Calcium, 2016
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Kohrogi K et al.
Journal of Human Genetics, 2015
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Gerards M et al.
Brain : a Journal of Neurology, 2014
Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3.
Quadri G et al.
Psychiatric Genetics, 2014
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
Schänzer A et al.
Brain Pathology (zurich, Switzerland), 2014
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
Vernau KM et al.
Plos One, 2013
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
Yamada K et al.
Bmc Medical Genetics, 2010
[Familial Wernicke's-like encephalopathy].
Miyajima H et al.
Rinsho Shinkeigaku = Clinical Neurology, 2010
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
Kono S et al.
The New England Journal of Medicine, 2009
[Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago--a syndrome].
Fukutake T et al.
Rinsho Shinkeigaku = Clinical Neurology, 1985
[Case of congenital ectodermal dysplasia (anhydrotic type) with mental retardation and epilepsy].
Egusa Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 1973
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.
Zhao R et al.
Molecular Aspects of Medicine, 0