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Page 1
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
Redonnet-Vernhet I, Mercié P, Lebreton L, Blouin JM, Bronnimann D, Mesli S, Guibet C, Ribeiro E, Gensous N, Duffau P, Gouya L, Richard E. Redonnet-Vernhet I, et al. Among authors: gouya l. Mol Genet Metab Rep. 2024 Apr 4;39:101076. doi: 10.1016/j.ymgmr.2024.101076. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38601120 Free PMC article.
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.
Peterlin P, Bonnelye J, Garnier A, Le Bourgeois A, Guillaume T, Jullien M, Dutartre H, Le Moigne M, Schmitt C, Gouya L, Poli A, Barbarot S, Chevallier P. Peterlin P, et al. Among authors: gouya l. Skin Health Dis. 2024 Jan 27;4(2):e342. doi: 10.1002/ski2.342. eCollection 2024 Apr. Skin Health Dis. 2024. PMID: 38577034 Free PMC article.
Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates.
Córdoba KM, Jericó D, Jiang L, Collantes M, Alegre M, García-Ruiz L, Manzanilla O, Sampedro A, Herranz JM, Insausti I, Martinez de la Cuesta A, Urigo F, Alcaide P, Morán M, Martín MA, Lanciego JL, Lefebvre T, Gouya L, Quincoces G, Unzu C, Hervas-Stubbs S, Falcón-Pérez JM, Alegre E, Aldaz A, Fernández-Seara MA, Peñuelas I, Berraondo P, Martini PGV, Avila MA, Fontanellas A. Córdoba KM, et al. Among authors: gouya l. Gut. 2025 Jan 17;74(2):270-283. doi: 10.1136/gutjnl-2024-332619. Gut. 2025. PMID: 39366725 Free article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: gouya l. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
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: gouya l. J Inherit Metab Dis. 2025 Jan;48(1):e12809. doi: 10.1002/jimd.12809. Epub 2024 Oct 25. J Inherit Metab Dis. 2025. PMID: 39460373
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: gouya l. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
Erythropoietic protoporphyrias: updates and advances.
Poli A, Schmitt C, Puy H, Talbi N, Lefebvre T, Gouya L. Poli A, et al. Among authors: gouya l. 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.
148 results