Associated Papers
An unusually mild case of biotin-thiamine-responsive basal ganglia disease.
Lail G et al.
Molecular Genetics and Metabolism Reports, 2023
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
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
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
27604308 (PubMed )
Supplement: aww221_supplementary_data.zip › brain-2016-00692-File005.pdf
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Gerards M et al.
Brain : a Journal of Neurology, 2014
Treatable Leigh-like encephalopathy presenting in adolescence.
Fassone E et al.
Bmj Case Reports, 2013
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