ARS1 Deficiencies JIMD Podcasts podcast

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ARS1 Deficiencies

7d ago 20:55

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Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

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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223 episodes

#Science #JIMD #Journal Of Inherited Metabolic Disease

Artwork

ARS1 Deficiencies

published 7d ago

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MP3•Episode home

Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

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

… continue reading

223 episodes

#Science #JIMD #Journal Of Inherited Metabolic Disease

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