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Published in 2022 at "Journal of clinical neuromuscular disease"
DOI: 10.1097/cnd.0000000000000390
Abstract: ABSTRACT We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She…
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Keywords:
deficiency type;
riboflavin transporter;
electrodiagnostic findings;
transporter deficiency ... See more keywords
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Published in 2022 at "Journal of Neuro-Ophthalmology"
DOI: 10.1097/wno.0000000000001678
Abstract: Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD). Methods: This is a…
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Keywords:
riboflavin supplementation;
riboflavin transporter;
transporter deficiency;
vision ... See more keywords
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Published in 2017 at "PLoS Neglected Tropical Diseases"
DOI: 10.1371/journal.pntd.0005513
Abstract: Background Trypanosomatid parasites represent a major health issue affecting hundreds of million people worldwide, with clinical treatments that are partially effective and/or very toxic. They are responsible for serious human and plant diseases including Trypanosoma…
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Keywords:
riboflavin transporter;
family;
first riboflavin;
riboflavin ... See more keywords
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Published in 2020 at "Antioxidants"
DOI: 10.3390/antiox9121252
Abstract: Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration. Since riboflavin plays key functions in biological oxidation-reduction reactions, energy metabolism pathways involving flavoproteins are affected in RTD.…
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Keywords:
transporter deficiency;
motor neurons;
riboflavin transporter;
pluripotent stem ... See more keywords