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Simplifying Inherited Metabolic Disease

EPISODE · Jul 24, 2020 · 20 MIN

Simplifying Inherited Metabolic Disease

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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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Simplifying Inherited Metabolic Disease

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