Associated Papers
Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
Chen Z et al.
Frontiers in Pediatrics, 2026
Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy.
Paprocka J et al.
Metabolites, 2025
Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene.
Jreissati JT et al.
Metabolites, 2025
Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.
Fennessy JR et al.
Developmental Medicine and Child Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.
Piecuch AK et al.
The American Journal of Case Reports, 2023
Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.
Fennessy JR et al.
Journal of the Peripheral Nervous System : Jpns, 2023
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 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
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ et al.
Journal of Neuromuscular Diseases, 2021
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
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Nimmo GAM et al.
American Journal of Medical Genetics. Part A, 2018
SLC52A2 mutations cause SCABD2 phenotype: A second report.
Babanejad M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency.
Fan J et al.
Cerebellum & Ataxias, 2018
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
Allison T et al.
Journal of Child Neurology, 2017
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Guissart C et al.
European Journal of Human Genetics : Ejhg, 2016
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
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
Srour M et al.
Muscle & Nerve, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Fogel BL et al.
Jama Neurology, 2014
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Johnson JO et al.
Brain : a Journal of Neurology, 2012