Results 11 to 20 of about 17,684 (152)

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study [PDF]

Orphanet Journal of Rare Diseases
Background Riboflavin transporter deficiency (RTD) is an inborn error of riboflavin transport causing progressive neurological symptoms if left untreated.
B. Jaeger, E. Hoytema van Konijnenburg, M. A. Groenveld, M. Langeveld, N. I. Wolf, A. M. Bosch   +5 more
doaj   +8 more sources

A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report [PDF]

Frontiers in Pediatrics
IntroductionRiboflavin transporter deficiency (RTD) is a rare genetic disorder that affects riboflavin transport, leading to impaired red blood cell production and resulting in pure red cell aplasia.
Jingying Cheng, Jiafeng Yao, Shasha Zhao, Lingling Fu, Liqiang Zhang, Jin Jiang   +5 more
doaj   +5 more sources

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons [PDF]

Cell Death Discovery, 2023
Riboflavin Transporter Deficiency (RTD) is a rare genetic, childhood-onset disease. This pathology has a relevant neurological involvement, being characterized by motor symptoms, ponto-bulbar paralysis and sensorineural deafness.
Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno   +9 more
doaj   +8 more sources

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

Cureus, 2023
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here, we report the second case of RTD in Saudi Arabia.
Alasqah MI, Aldriweesh B, Alshareef WA, Alhashem MH, Alammar A.   +4 more
europepmc   +4 more sources

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

Dev Med Child Neurol
The aim of this longitudinal case series was to describe long‐term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high‐dose oral riboflavin. Data were collected between 2012 to 2022.
Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP.   +5 more
europepmc   +7 more sources

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Journal of the Peripheral Nervous System, 2023
Riboflavin 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.
Jack R Fennessy, Kayla M D Cornett, Joshua Burns   +2 more
exaly   +4 more sources

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

Oxid Med Cell Longev, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy.
Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, Tartaglia M, Bertini E, Compagnucci C, Moreno S.   +9 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.
Fan J, Fogel BL.
europepmc   +5 more sources

Development of a functional outcome measure for riboflavin transporter deficiency

Journal of the Peripheral Nervous System
Riboflavin 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.
Jack R Fennessy, Gabrielle A Donlevy, Marnee J Mckay   +2 more
exaly   +4 more sources

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

Journal of Inherited Metabolic Disease, 2019
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 encode human riboflavin ...
Benjamin O'Callaghan, Annet M Bosch, Henry Houlden   +2 more
exaly   +5 more sources