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991 results

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Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.
Lefebvre T, Eguether T, Thévenot E, Poli A, Chu-Van E, Krasniqi P, Schmitt C, Talbi N, Nicolas G, Puy H, Junot C, Lamazière A, Castelli F, Gouya L, Fenaille F. Lefebvre T, et al. Among authors: poli a. J Inherit Metab Dis. 2024 Oct 25. doi: 10.1002/jimd.12809. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39460373
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. 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
Erythropoietic protoporphyrias: updates and advances.
Poli A, Schmitt C, Puy H, Talbi N, Lefebvre T, Gouya L. Poli A, et al. Trends Mol Med. 2024 Sep;30(9):863-874. doi: 10.1016/j.molmed.2024.05.006. Epub 2024 Jun 17. Trends Mol Med. 2024. PMID: 38890030 Review.
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Mirmiran A, Poli A, Ged C, Schmitt C, Lefebvre T, Manceau H, Daher R, Moulouel B, Peoc'h K, Simonin S, Blouin JM, Deybach JC, Nicolas G, Puy H, Richard E, Gouya L. Mirmiran A, et al. Among authors: poli a. Haematologica. 2021 Mar 1;106(3):913-917. doi: 10.3324/haematol.2019.228270. Haematologica. 2021. PMID: 31919078 Free PMC article. No abstract available.
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report.
Poli A, Frieri C, Lefebvre T, Delforge J, Mirmiran A, Talbi N, Moulouel B, Six M, Paradis V, Parquet N, Puy H, Schmitt C, Aslangul E, de Fontbrune FS, Gouya L. Poli A, et al. Mol Genet Metab Rep. 2023 Oct 31;37:101018. doi: 10.1016/j.ymgmr.2023.101018. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053924 Free PMC article.
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Blouin JM, Ged C, Bernardo-Seisdedos G, Cabantous T, Pinson B, Poli A, Puy H, Millet O, Gouya L, Morice-Picard F, Richard E. Blouin JM, et al. Among authors: poli a. Mol Genet Metab Rep. 2021 Feb 11;27:100722. doi: 10.1016/j.ymgmr.2021.100722. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33659185 Free PMC article.
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Mirmiran A, Schmitt C, Lefebvre T, Manceau H, Daher R, Oustric V, Poli A, Lacapère JJ, Moulouel B, Puy H, Karim Z, Peoc'h K, Lenglet H, Simonin S, Deybach JC, Nicolas G, Gouya L. Mirmiran A, et al. Among authors: poli a. Am J Hum Genet. 2019 Feb 7;104(2):341-347. doi: 10.1016/j.ajhg.2018.12.021. Epub 2019 Jan 31. Am J Hum Genet. 2019. PMID: 30712775 Free PMC article.
991 results