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Diagnostic delay in Metachromatic Leukodystrophy

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Manage episode 495811453 series 3001064
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://podcastplayer.com/legal.
Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough. Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach Ali Mohajer, et al https://doi.org/10.1002/jimd.70049
  continue reading

222 episodes

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iconShare
 
Manage episode 495811453 series 3001064
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://podcastplayer.com/legal.
Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough. Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach Ali Mohajer, et al https://doi.org/10.1002/jimd.70049
  continue reading

222 episodes

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