par Gaibee, Zeenat;Warner, Neil;Bugda Gwilt, Katlynn;Lipshut, Willy;Guan, Rei;Yourshaw, Michael;Whittaker Hawkins, Ryder;Zorbas, Christiane
;St-Germain, Jonathan;Tabatabaie, Mahdi;Mao, Suli;Pinsk, Vered;Yerushalmi, Baruch;Wang, Lee-Kai;Nelson, Stanley F;Wozniak, Laura;Shouval, Dror D.S.;Matar, Manar;Assa, Amit;Frost, Nathaniel;Jimenez, Lissette;Acra, Sari;Walters, Thomas;Mouat, Stephen;Li, Michael;Lafontaine, Denis
;Tyska, Matthew;Raught, Brian;Avitzur, Yaron;Lencer, Wayne WI;Goldenring, James JR;Martín, Martín G;Thiagarajah, Jay JR;Muise, Aleixo M
Référence The New England journal of medicine, 392, 13, page (1297-1309)
Publication Publié, 2025-04-01


Référence The New England journal of medicine, 392, 13, page (1297-1309)
Publication Publié, 2025-04-01
Article révisé par les pairs
Résumé : | Next-generation sequencing has enabled precision therapeutic approaches that have improved the lives of children with rare diseases. Congenital diarrhea and enteropathies (CODEs) are associated with high morbidity and mortality. Although treatment of these disorders is largely supportive, emerging targeted therapies based on genetic diagnoses include specific diets, pharmacologic treatments, and surgical interventions. |