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An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency [PDF]

Journal of Inherited Metabolic Disease, 2019
Abstract Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that
Annet Bosch, Benjamin O'Callaghan, Henry Houlden   +2 more
exaly   +4 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 Pediatrics
ObjectiveTo 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, Landi Lai, Xiaomei Lu, Xiaomei Lu, Xiaomei Lu, Bomao Zhong, Bomao Zhong, Bomao Zhong, Qi Peng, Qi Peng, Qi Peng, Ziqiang Liu   +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, Nanna Dahl Rendtorff   +1 more
exaly   +3 more sources

Development of a functional outcome measure for riboflavin transporter deficiency

Journal of the Peripheral Nervous System
AbstractBackground 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, Kayla Cornett, Manoj Menezes   +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, Da Hae Yang, Sang Ook Nam, Yun-jin Lee, Gyu Min Yeon   +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 Diseases
Ramesh K. Narayanan, Gonzalo Perez-siles, Kamila A. Marzec, Alexandra Boyling, Brent Neumann, Manoj P. Menezes, Marina L. Kennerson   +6 more
doaj   +2 more sources

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

International Journal of Molecular Sciences, 2020
Marco Tartaglia, Sara Petrillo, Enrico Bertini   +2 more
exaly   +2 more sources

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience [PDF]

Journal of Inherited Metabolic Disease, 2016
Annet Bosch
exaly   +2 more sources

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

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, Serdar Ceylaner, Neslihan Önenli Mungan   +2 more
doaj   +1 more source

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

IUBMB Life, 2021
AbstractRiboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human riboflavin transporter 2 (RFVT2). This transporter is ubiquitously expressed and mediates tissue distribution of riboflavin, a water‐soluble vitamin that, after conversion into FMN
Console L., Tolomeo M., Cosco J., Massey K., Barile M., Indiveri C.   +5 more
openaire   +3 more sources