Associated Papers
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M et al.
Bioscience Reports, 2022
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M et al.
Human Genome Variation, 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
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
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
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD et al.
Brain : a Journal of Neurology, 2016
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Haack TB et al.
Brain : a Journal of Neurology, 2014
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