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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: talbi n. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
[Porphyrias and haem related disorders].
Peoc'h K, Martin-Schmitt C, Talbi N, Deybach JC, Gouya L, Puy H. Peoc'h K, et al. Among authors: talbi n. Rev Med Interne. 2016 Mar;37(3):173-85. doi: 10.1016/j.revmed.2015.12.005. Epub 2016 Jan 7. Rev Med Interne. 2016. PMID: 26774916 Review. French.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. Gouya L, et al. Among authors: talbi n. Hepatology. 2020 May;71(5):1546-1558. doi: 10.1002/hep.30936. Epub 2019 Nov 7. Hepatology. 2020. PMID: 31512765 Free PMC article.
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.
Lazareth H, Talbi N, Kamar N, Levi C, Moulin B, Caillard S, Frimat L, Chemouny J, Chatelet V, Vachey C, Snanoudj R, Lefebvre T, Karras A, Gouya L, Schmitt C, Puy H, Pallet N. Lazareth H, et al. Among authors: talbi n. Mol Genet Metab. 2020 Sep-Oct;131(1-2):259-266. doi: 10.1016/j.ymgme.2020.08.004. Epub 2020 Sep 2. Mol Genet Metab. 2020. PMID: 32893121
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Poli A, Schmitt C, Moulouel B, Mirmiran A, Talbi N, Rivière S, Cerutti D, Bouchoule I, Faivre A, Grobost V, Douillard C, Duchêne F, Fiorentino V, Dupré T, Manceau H, Peoc'h K, Puy H, Lefebvre T, Gouya L. Poli A, et al. Among authors: talbi n. Mol Genet Metab. 2022 Mar;135(3):206-214. doi: 10.1016/j.ymgme.2022.01.002. Epub 2022 Jan 10. Mol Genet Metab. 2022. PMID: 35058124
21 results