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Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP. Le Rouzic MA, et al. Among authors: manceau h. Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26. Blood Cells Mol Dis. 2017. PMID: 28772256
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.
Rare microcytic anemias.
Puy H, Manceau H, Karim Z, Kan-Nengiesser C. Puy H, et al. Among authors: manceau h. Bull Acad Natl Med. 2016 Feb;200(2):335-347. Bull Acad Natl Med. 2016. PMID: 29898329
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.
Rio S, Gastou M, Karboul N, Derman R, Suriyun T, Manceau H, Leblanc T, El Benna J, Schmitt C, Azouzi S, Larghéro J, Karim Z, Macias-Garcia A, Chen JJ, Hermine O, Courtois G, Puy H, Gouya L, Mohandas N, Da Costa L. Rio S, et al. Among authors: manceau h. Blood. 2019 Mar 21;133(12):1358-1370. doi: 10.1182/blood-2018-09-875674. Epub 2019 Jan 30. Blood. 2019. PMID: 30700418 Free PMC article.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. Ducamp S, et al. Among authors: manceau h. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450. Haematologica. 2021. PMID: 33596641 Free PMC article. No abstract available.
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.
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