Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: deficiency type; riboflavin transporter; electrodiagnostic findings; transporter deficiency ... See more keywords
Ocular Biomarkers of Riboflavin Transporter Deficiency
Sign Up to like & getrecommendations! 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… read more here.
Keywords: riboflavin supplementation; riboflavin transporter; transporter deficiency; vision ... See more keywords
The superfamily keeps growing: Identification in trypanosomatids of RibJ, the first riboflavin transporter family in protists
Sign Up to like & getrecommendations! 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… read more here.
Keywords: riboflavin transporter; family; first riboflavin; riboflavin ... See more keywords
Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency
Sign Up to like & getrecommendations! 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.… read more here.
Keywords: transporter deficiency; motor neurons; riboflavin transporter; pluripotent stem ... See more keywords