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ARS1 Deficiencies
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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By Journal of Inherited Metabolic Disease
5
1010 ratings
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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