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Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters RFVT2 and RFVT3. In the present study we focused on RTD Type 2, which is due to variants in SLC52A2 gene.
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