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Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position Statement.

Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Nov 2024

Sechi Annalisa, Urban Maria Letizia, Murphy Elaine, Pession Andrea, Scarpa Maurizio

Abstract excerpt

Inherited metabolic disorders (IMDs), previously considered as a paediatric sub-specialisation are more and more prevalent in adults, thanks to improved survival, and the expansion of diagnostic tools detecting attenuated-late onset forms in adulthood. Italy is one of the countries with the highest number of IMDs screened by dry blood spots in neonates, allowing them to receive early treatments and to reach adult...

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PMID: 39174424
DOI: 10.1016/j.numecd.2024.07.017

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