Simplifying Inherited Metabolic Disease
Jul 24, 2020•20 min
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Episode description
Professor Saudubray and Professor Garcià-Cazorla discuss their paper from 2019 which proposed a simplified classification of IMD. They discuss the challenges of placing over 1000 diagnoses in one of three categories and the value this provides to clinicians.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
Jean‐Marie Saudubray et al
https://doi.org/10.1002/jimd.12086
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