Results 131 to 140 of about 2,738 (140)

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

International Journal of Audiology, 2022
Zühal Yapıcı
exaly  

Riboflavin Transporter Deficiency: Effectiveness of High Dose Riboflavin Therapy and Clinical Trial Readiness

Riboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset characterised clinically by bulbar palsy, limb muscle weakness, sensorineural hearing loss, visual impairment, sensory ataxia and respiratory compromise. Without treatment, the condition progresses relentlessly resulting in early death due to respiratory ...
openaire   +1 more source

Epidemiology of Riboflavin Transporter Deficiency (RTD)

2017
openaire   +1 more source

Auditory Neuropathy in Riboflavin Transporter Deficiency

2017
openaire   +1 more source

Riboflavin transporter deficiency unmasked by dietary changes

Molecular Genetics and Metabolism
Annet Bosch, Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Disterlmaier, Nicole Wolf   +5 more
openaire   +1 more source

Riboflavin transporter deficiency diagnosed 30 years after onset of symptoms

Neuromuscular Disorders, 2016
A. van der Kooi, B. Jaeger, K. van Spaendonck, A. Bosch   +3 more
openaire   +1 more source

Riboflavin Transporter Deficiency Presentation, Genetics and Treatment

2019
openaire   +1 more source

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

American Journal of Medical Genetics, Part A, 2018
Peter Kannu, Saadet Mercimek-Andrews, Resham Ejaz   +2 more
exaly  

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human Mutation, 2011
Satohiro Masuda, John J Mitchell, Atsushi Yonezawa   +2 more
exaly  

Riboflavin Transporter Deficiency or Brown-Vialetto-Van Laere Syndrome

Enrico Bertini, Claudia Compagnucci, Keith Massey   +2 more
openaire   +1 more source