Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P; other members of the expert group consortium.
Cano A, et al.
J Inherit Metab Dis. 2026 Mar;49(2):e70160. doi: 10.1002/jimd.70160.
J Inherit Metab Dis. 2026.
PMID: 41702545
Free PMC article.