Associated Papers
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
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
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.
Alfadhel M
Journal of Central Nervous System Disease, 2017
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Gerards M et al.
Brain : a Journal of Neurology, 2014
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH et al.
Brain : a Journal of Neurology, 2013
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