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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J. Brakta C, et al. Among authors: dehak r. J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. J Clin Immunol. 2024. PMID: 39578275
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.