msCNN-PLM-FAD: Enhanced predicting FAD binding sites by using protein language representation combined with multiple separable windows convolutional neural networks.

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.

Progressive Weakness in Adulthood: Lipid Storage Myopathy With Suspected Sertraline-Associated Etiology.

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy.

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.

Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.

[Neuromuscular diseases in pediatrics with specific treatments].

Identification of Riboflavin Metabolism Pathway in HepG2 Cells Expressing Genotype IV Swine Hepatitis E Virus ORF3 Protein.

Mitochondrial medicine in fatty acid oxidation disorders: insights from genetic discoveries and patient cell models.

Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies.

Exploring neuropsychiatric manifestations of vitamin B complex deficiencies.

Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene.

Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE.

NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.

Is there a role for whole genome sequencing in idiopathic vocal fold immobility?

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

Identification and Physiological Analysis of Novel Riboflavin Transporter RFVT.

Long-Term Survival in Brown-Vialetto-Van Laere Syndrome: A Case Report Highlighting Respiratory Care.

Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition.

Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.

Riboflavin, Retbindin, and Riboflavin Transporters in the Retina.

Production of the recombinant human riboflavin transporters SLC52A1, 3 and functional assay in proteoliposomes.

Nanoencapsulation of vitamin B2 using chitosan-modified poly(lactic-co-glycolic acid) nanoparticles: Synthesis, characterization, and in vitro studies on simulated gastrointestinal stability and delivery.

Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.

Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy.

Riboflavin kinase binds and activates inducible nitric oxide synthase to reprogram macrophage polarization.

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.

Transcriptome analysis of tilapia streptococcus agalactiae in response to baicalin.

Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long-term follow-up.

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.

Diffusion-Weighted Magnetic Resonance Imaging (dMRI) and Cochlear Implant Outcomes in Axonal Auditory Neuropathy: A Case Report.

The various forms of hereditary motor neuron disorders and their historical descriptions.

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.

Distal hereditary motor neuropathies.

A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report.

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.

Development of a functional outcome measure for riboflavin transporter deficiency.

"De Novo" Hypercapnic Respiratory Failure Unmasking Neuromuscular Disorders: Experiences From a Tertiary Care Center and Review of Literature.

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons.

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.

"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.

Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.

Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.

Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect.

Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report.

Protein kinase MtCIPK12 modulates iron reduction in Medicago truncatula by regulating riboflavin biosynthesis.

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency.

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.

Apoplast utilisation of nanohaematite initiates parallel suppression of RIBA1 and FRO1&3 in Cucumis sativus.

Redox properties and PAS domain structure of the Escherichia coli energy sensor Aer indicate a multistate sensing mechanism.

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement.

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.

Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

Metabolomics Analysis of the Effect of GAT-2 Deficiency on Th1 Cells in Mice.

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.

To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler.

An rfuABCD-Like Operon and Its Relationship to Riboflavin Utilization and Mammalian Infectivity by Borrelia burgdorferi.

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.

Riboflavin in Neurological Diseases: A Narrative Review.

SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility.

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

ETF dehydrogenase advances in molecular genetics and impact on treatment.

Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System.

Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.

Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency.

Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.

Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency.

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.

Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic.

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.

Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Differential Metabolomic Analysis of Liver Tissues from Rat Models of Parenteral Nutrition-Associated Liver Disease.

A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.

In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3.

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2.

Culturable gut bacteria lack Escherichia coli in children with phenylketonuria.

Riboflavin deficiency alters cholesterol homeostasis partly by reducing apolipoprotein B100 synthesis in HepG2 cells.

Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli.

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Flavodoxin with an air-stable flavin semiquinone in a green sulfur bacterium.

Riboflavin deficiency affects lipid metabolism partly by reducing apolipoprotein B100 synthesis in rats.

Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.

Maternal diet deficient in riboflavin induces embryonic death associated with alterations in the hepatic proteome of duck embryos.

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.

Disorders of riboflavin metabolism.

Iron Regulation in Clostridioides difficile.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.

A reexamination on the deficiency of riboflavin accumulation in Malpighian tubules in larval translucent mutants of the silkworm, Bombyx mori.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

[Modern approaches to components of therapy of patients with diabetes mellitus operated on for malignant neoplasms of small pelvic organs].

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.

The Nicotiana tabacum ABC transporter NtPDR3 secretes O-methylated coumarins in response to iron deficiency.

Riboflavin Depletion Promotes Tumorigenesis in HEK293T and NIH3T3 Cells by Sustaining Cell Proliferation and Regulating Cell Cycle-Related Gene Transcription.

Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.

Transcriptomics reveals a cross-modulatory effect between riboflavin and iron and outlines responses to riboflavin biosynthesis and uptake in Vibrio cholerae.

Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein.

Targeting flavin-containing enzymes eliminates cancer stem cells (CSCs), by inhibiting mitochondrial respiration: Vitamin B2 (Riboflavin) in cancer therapy.

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Bombyx ortholog of the Drosophila eye color gene brown controls riboflavin transport in Malpighian tubules.

Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks.

Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Ablation of the riboflavin-binding protein retbindin reduces flavin levels and leads to progressive and dose-dependent degeneration of rods and cones.

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.

Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice.

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.

Plasma Riboflavin Level is Associated with Risk, Relapse, and Survival of Esophageal Squamous Cell Carcinoma.

The putative flavin carrier family FlcA-C is important for Aspergillus fumigatus virulence.

Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.

Riboflavin transport and metabolism in humans.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption.

Cucumis sativus secretes 4'-ketoriboflavin under iron-deficient conditions.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Effects of p67phox on the mitochondrial oxidative state in the kidney of Dahl salt-sensitive rats: optical fluorescence 3-D cryoimaging.

Riboflavin transporter-2 (rft-2) of Caenorhabditis elegans: Adaptive and developmental regulation.

Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency.