Diagnostic delay in Metachromatic Leukodystrophy
Dr Laura Adang returns to the podcast, this time …
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Diagnostic delay in Metachromatic Leukodystrophy" was published on July 22, 2025 and runs 21 minutes.
July 22, 2025 ·21m · JIMD Podcasts
Summary
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
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