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Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Juliette BouchereauCamille WickerKarine MentionClothilde MarbachJeremy Do CaoClaire-Marine BeratMarianne JaroussieAline CanoMagali GorceAlexa GarrosAlice KusterCélia HoebekeClaire MayerAnaïs BrassierLaurent GouyaCécile SchrimpfJean-Baptiste ArnouxManuel SchiffCécile Acquaviva-BourdainJean-François BenoistSandy CourapiedPierre BrouéMehdi OualhaClaire DouillardPascale de Lonlay
Published in: Molecular genetics and metabolism (2024)
In total, 51 emergency protocols containing essential information have been developed and provided to affected patients. All the emergency protocols are freely available in both French and English at https://www.filiere-g2m.fr/urgences. These standardized protocols aim to enhance the emergency care of patients without delay, while also assisting HCPs by increasing their confidence and efficiency, minimizing the risk of dosage errors when administering specialized treatments, saving time, and reducing the number of phone calls to metabolic medicine specialists on night duty. The protocols are scheduled for annual review to facilitate further improvements based on feedback from HCPs and patients, as well as to accommodate any changes in management practices as they evolve.
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