Associated Papers
Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.
Fennessy JR et al.
Developmental Medicine and Child Neurology, 2025
C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.
Narayanan RK et al.
Genes & Diseases, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
Sanchez JA et al.
Journal of Clinical Neuromuscular Disease, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA et al.
Nature Communications, 2022
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Pillai NR et al.
American Journal of Medical Genetics. Part A, 2020
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
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
Menezes MP et al.
Developmental Medicine and Child Neurology, 2016
Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.
Menezes MP et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Petrovski S et al.
Cold Spring Harbor Molecular Case Studies, 2015
Large-scale whole-genome sequencing of the Icelandic population.
Gudbjartsson DF et al.
Nature Genetics, 2015
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology.
Subramanian VS et al.
Nutrition & Metabolism, 2015
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB et al.
Journal of Inherited Metabolic Disease, 2012