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MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Eur J Med Genet. 2023 Nov;66(11):104853. doi: 10.1016/j.ejmg.2023.104853. Epub 2023 Sep 25.
Eur J Med Genet. 2023.
PMID: 37758169
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B.
Frémond ML, et al. Among authors: todosi c.
J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12.
J Clin Immunol. 2023.
PMID: 37171742
Free PMC article.
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[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].
Julien M, Todosi C, Fouyssac F, Lesesve JF, Gérard D, Perrin J.
Julien M, et al. Among authors: todosi c.
Ann Biol Clin (Paris). 2023 Mar 15;81(2). doi: 10.1684/abc.2023.1789.
Ann Biol Clin (Paris). 2023.
PMID: 36866814
French.
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