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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. Among authors: doummar d. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
["Idiopathic" acute optic neuropathies in children].
Hamard H, Hamard P, Gohier P, Roussat B, Doummar D, Iba-Zizen MT. Hamard H, et al. Among authors: doummar d. Bull Acad Natl Med. 2000;184(7):1511-9; discussion 1519-21. Bull Acad Natl Med. 2000. PMID: 11261255 French.
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E. Saugier-Veber P, et al. Among authors: doummar d. Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369. Am J Med Genet A. 2010. PMID: 20425829
[Movement disorders in children].
Roubertie A, Thobois S, de Saint Martin A, Billette de Villemeur T, Doummar D. Roubertie A, et al. Among authors: doummar d. Arch Pediatr. 2006 Jun;13(6):798-800. doi: 10.1016/j.arcped.2006.03.074. Epub 2006 May 11. Arch Pediatr. 2006. PMID: 16690306 French. No abstract available.
124 results