Associated Papers
Ocular Biomarkers of Riboflavin Transporter Deficiency.
Bulas S et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Zhao S et al.
Frontiers in Genetics, 2022
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
Shi K et al.
Bmc Medical Genetics, 2019
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
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