Article
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.
Journal of inherited metabolic disease - 1 Mar 2026
Cano Aline, Chen Xiaoyi, Khemiri Azza, Brassier Anais, Jean-Baptiste Arnoux, Froissart Roseline, Bouchereau Juliette, Hoebeke Célia, Mazodier Karin, Héron Bénédicte, Labrune Philippe, Caillaud Catherine, Cheillan David, Nadjar Yann, Pichard Samia, Imbard Apolline, Pettazzoni Magali, Douillard Claire, Nadia Belmatoug, Calatayud Anna-Line, Zerguini Mounira, Garcelon Nicolas, Benoist Jean-François, Acquaviva Cécile, De Lonlay Pascale
Abstract excerpt
The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal of the French Ministry of Health and Prevention (Rare Disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.