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Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L. Oustric V, et al. Among authors: manceau h. Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680888 Free PMC article.
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
Smith CM, Jerkovic A, Puy H, Winship I, Deybach JC, Gouya L, van Dooren G, Goodman CD, Sturm A, Manceau H, McFadden GI, David P, Mercereau-Puijalon O, Burgio G, McMorran BJ, Foote SJ. Smith CM, et al. Among authors: manceau h. Blood. 2015 Jan 15;125(3):534-41. doi: 10.1182/blood-2014-04-567149. Epub 2014 Nov 20. Blood. 2015. PMID: 25414439 Free PMC article.
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. Yien YY, et al. Among authors: manceau h. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5. Proc Natl Acad Sci U S A. 2017. PMID: 28874591 Free PMC article.
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L. Schmitt C, et al. Among authors: manceau h. J Intern Med. 2018 Jul;284(1):78-91. doi: 10.1111/joim.12750. Epub 2018 Mar 26. J Intern Med. 2018. PMID: 29498764 Free article.
33 results