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Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12086
Abstract: In view of the rapidly expanding number of IMD discovered by next generation sequencing, we propose a simplified classification of IMD that mixes elements from a clinical diagnostic perspective and a pathophysiological approach based on…
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Keywords:
imd;
classification;
classification imd;
simplified classification ... See more keywords