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Haluk A. Topaloglu

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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
Review Open access Aug 2026

Spinal muscular atrophy: history and current treatment landscape

An overview of the history of SMA is provided, highlighting its evolving classification and the genetic basis underlying its clinical variability, and the development and clinical trial data of the three Food and Drug Administration- and European Medicines Agency-approved therapies: nusinersen, onasemnogene abeparvovec...

Olcay Ünver, J. Wilmshurst, Haluk A. Topaloglu · 0 citations

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