Listen "Diagnostic delay in Metachromatic Leukodystrophy"
Episode Synopsis
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
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
ZARZA We are Zarza, the prestigious firm behind major projects in information technology.