Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Rory J. Tinker discusses diagnostic delay in mitochondrial disease, showing that most delays occur before clinical suspicion, despite canonical features being documented years earlier. The study highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches. Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features Rory J. Tinker, et al https://doi.org/10.1002/jmd2.70068

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