Diagnostic delay in Metachromatic Leukodystrophy
Update: 2025-07-22
Description
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
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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