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Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S. Marguet F, et al. Among authors: tebani a. Metab Brain Dis. 2016 Dec;31(6):1435-1443. doi: 10.1007/s11011-016-9869-z. Epub 2016 Jul 20. Metab Brain Dis. 2016. PMID: 27438048
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P, Lebbah S, Tebani A, Sudrié-Arnaud B, Tostivint I, Bollee G, Tubeuf H, Charles T, Bertholet-Thomas A, Goldenberg A, Barbey F, Martins A, Saugier-Veber P, Frébourg T, Knebelmann B, Bekri S. Gaildrat P, et al. Among authors: tebani a. Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717662 Free PMC article.
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Among authors: tebani a. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.
69 results