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A. Bedir

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Sep 2026

Longitudinal riboflavin response in homozygous SLC52A2 p.Pro134Leu: a Turkish kindred with riboflavin transporter deficiency type 2.

Riboflavin transporter deficiency (RTD) is a rare but treatable autosomal recessive neurodegenerative disorder caused by biallelic variants in SLC52A2 (RTD2) or SLC52A3 (RTD3). It typically presents with motor neuronopathy and sensorineural hearing loss. High-dose riboflavin is beneficial but does not halt disease prog...

A. Bedir, Haluk A. Topaloglu · 0 citations

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