Results 161 to 170 of about 620,035 (172)

The Clinical Journey of Patients With Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2020
Fatima Amir, Lisa L Hunter, Keith Massey
exaly  

Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect

Pediatric Neurology, 2023
Jo M Wilmshurst, Sharika Raga
exaly  

Impact of Natural Mutations on the Riboflavin Transporter 2 and Their Relevance to Human Riboflavin Transporter Deficiency 2

IUBMB Life, 2022
Maria Barile, Cesare Indiveri, Lara Console   +2 more
exaly  

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 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  

Riboflavin Transporter Deficiency Presentation, Genetics and Treatment

2019
openaire   +1 more source

Established and Novel Measures of Upper Limb Impairment in Children With Charcot-Marie-Tooth Disease Type 1A and Riboflavin Transporter Deficiency Type 2

Journal of the Peripheral Nervous System, 2018
Joshua Burns, Paula Bray, Mark Halaki
exaly