Results 161 to 168 of about 571,237 (168)

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-Mahmutoglu, 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