Disease: Brown-Vialetto-Van laere syndrome
- A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome
- A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in <em>SLC52A3</em> Gene: Clinical Course and Response to Riboflavin
- A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin
- A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the <em>SLC52A3</em> gene
- 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
- A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)
- A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder
- A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin
- A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment
- A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family
- Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report
- An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency
- Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells
- Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations
- Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency
- Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation
- Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency
- Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders
- Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)
- Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance
- Brown-Vialetto-Van Laere syndrome
- Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses
- Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature
- Brown-Vialetto-Van Laere syndrome: a 28-year follow-up
- Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
- Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic
- Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features
- Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients
- Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient
- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes
- BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene
- Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia
- Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy
- Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
- Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
- Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient
- Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis
- Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice
- Corrigendum to "Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses" [J. Clin. Neurosci. 72 (2020) 342-349]
- Development of a functional outcome measure for riboflavin transporter deficiency
- Distal hereditary motor neuropathies
- Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment
- Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition
- First report of paternal uniparental disomy of chromosome 8 with <em>SLC52A2</em> mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
- 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
- Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings
- Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System
- Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2
- Genetic etiology of hearing loss in Iran
- Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
- Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin
- Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
- Identification of a mutation in <em>TNRC18</em> in a patient with clinical features of Fazio-Londe disease
- Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology
- In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3
- In silico investigation on structure-function relationship of members belonging to the human SLC52 transporter family
- Large-scale whole-genome sequencing of the Icelandic population
- Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
- Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies
- Lingual Fasciculation as a Point of Call for the Diagnosis of Amyotrophic Lateral Sclerosis: A Literature Review
- Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome
- Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients
- Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood
- Neurotologic and functional MRI findings in a patient with bilateral profound deafness having Brown-Vialetto-Van Leare syndrome
- Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect
- Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52
- Ocular Biomarkers of Riboflavin Transporter Deficiency
- Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
- Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
- Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran
- Promising riboflavin treatment for motor neuron disorder
- Recent advances in bulbar syndromes: genetic causes and disease mechanisms
- Recent advances in riboflavin transporter RFVT and its genetic disease
- Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in <em>E. coli</em>
- Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome
- Riboflavin 1 Transporter Deficiency: Novel <em>SLC52A1</em> Variants and Expansion of the Phenotypic Spectrum
- Riboflavin in Neurological Diseases: A Narrative Review
- Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases
- Riboflavin transport and metabolism in humans
- Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
- Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome
- Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia
- SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
- SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters
- SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation
- Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency
- Sudden Onset Auditory Neuropathy Spectrum Disorder: A Rare Case Report of Brown Vialetto Van Laere Syndrome
- Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
- Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'
- The audiovestibular profile of Brown-Vialetto-Van Laere syndrome
- The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
- The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2
- The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa
- Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2
- Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2