ARS1 Deficiencies
In this episode, Sabine Fuchs and Eva Hoytema dis…
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "ARS1 Deficiencies" was published on August 5, 2025 and runs 20 minutes.
August 5, 2025 ·20m · JIMD Podcasts
Summary
In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders. Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects Eva M. M. Hoytema van Konijnenburg, et al https://doi.org/10.1002/jimd.70017
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