Associated Papers
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
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.
Alfadhel M
Journal of Central Nervous System Disease, 2017
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Sremba LJ et al.
Molecular Genetics and Metabolism Reports, 2014
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