Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency
Journal of the Peripheral Nervous System, 2023 AbstractRiboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short‐term reports, but the quantum of benefit in various clinical ...
Kayla Cornett +2 more
exaly +3 more sources
Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. [PDF]
Dev Med Child Neurolhttps://onlinelibrary.wiley.com/doi/10.1111/dmcn.16083
Fennessy JR +5 more
europepmc +5 more sources
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. [PDF]
Cerebellum Ataxias, 2018 Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical, presentation may be variable and an atypical ...
Fan J, Fogel BL.
europepmc +4 more sources
Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies [PDF]
Frontiers in NeurologyBackgroundRiboflavin (vitamin B2), a precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), is essential for mitochondrial function, redox balance, and neuronal viability.
Zhiming Tao +11 more
doaj +2 more sources
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? [PDF]
Parkinsonism and Related Disorders, 2019 Contains fulltext : 206709.pdf (Publisher’s version ) (Open Access)
Emil Ygland Rödström +1 more
exaly +3 more sources
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 [PDF]
Frontiers in PediatricsObjectiveTo report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to ...
Zhenzhen Chen +11 more
doaj +2 more sources
Development of a functional outcome measure for riboflavin transporter deficiency
Journal of the Peripheral Nervous SystemAbstractBackground and AimsRiboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure.
Marnee J McKay +2 more
exaly +3 more sources
Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of [PDF]
Annals of Child Neurology, 2020 Urim Kang +4 more
doaj +4 more sources
C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement [PDF]
Genes and DiseasesRamesh K. Narayanan +6 more
doaj +2 more sources
The Turkish Journal of Pediatrics, 2021 Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case.
Berna Şeker Yılmaz +2 more
doaj +1 more source