ARS1 Deficiencies

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

Episode metadata supplied by the publisher feed · Published Aug 5, 2025

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ARS1 Deficiencies

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