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Select record 21
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Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome
Author / Creator:de Montalembert, Mariane ; Ribeil, Jean-Antoine ; Brousse, Valentine ; Guerci-Bresler, Agnes ; Stamatoullas, Aspasia ; Vannier, Jean-Pierre ; Dumesnil, Cécile ; Lahary, Agnès ; Touati, Mohamed ; Bouabdallah, Krimo ; Cavazzana, Marina ; Chauzit, Emmanuelle ; Baptiste, Amandine ; Lefebvre, Thibaud ; Puy, Hervé ; Elie, Caroline ; Karim, Zoubida ; Ernst, Olivier ; Rose, Christian
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-03, Vol.12 (3), p.e0172147
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Towards a Common Definition for the Diagnosis of Iron Deficiency in Chronic Inflammatory Diseases
Author / Creator:Cacoub, Patrice ; Choukroun, Gabriel ; Cohen-Solal, Alain ; Luporsi, Elisabeth ; Peyrin-Biroulet, Laurent ; Peoc’h, Katell ; Andrieu, Valérie ; Lasocki, Sigismond ; Puy, Hervé ; Trochu, Jean-Noël
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2022-02, Vol.14 (5), p.1039
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Author / Creator:Poli, Antoine ; Schmitt, Caroline ; Moulouel, Boualem ; Mirmiran, Arienne ; Puy, Hervé ; Lefèbvre, Thibaud ; Gouya, Laurent
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2021-11, Vol.11 (12), p.798
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Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors
Author / Creator:Benoit, Charlotte ; Rodrigues, Aurélie ; Calderaro, Julien ; Charpy, Cécile ; Simonin, Sylvie ; Deybach, Jean-Charles ; Gouya, Laurent ; Puy, Hervé ; Schmitt, Caroline ; Farcy, René ; Vilgrain, Valérie ; Paradis, Valérie ; Pote, Nicolas ; Lafdil, Fouad ; Mule, Sébastien ; Itti, Emmanuel ; Luciani, Alain
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European radiology, 2022-04, Vol.32 (4), p.2481-2491
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Hepcidin regulates intrarenal iron handling at the distal nephron
Author / Creator:Moulouel, Boualem ; Houamel, Dounia ; Delaby, Constance ; Tchernitchko, Dimitri ; Vaulont, Sophie ; Letteron, Philippe ; Thibaudeau, Olivier ; Puy, Hervé ; Gouya, Laurent ; Beaumont, Carole ; Karim, Zoubida
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2013-10, Vol.84 (4), p.756-766
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Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior
Author / Creator:Saison, Carole ; Helias, Virginie ; Ballif, Bryan A ; Peyrard, Thierry ; Puy, Hervé ; Miyazaki, Toru ; Perrot, Sébastien ; Vayssier-Taussat, Muriel ; Waldner, Mauro ; Le Pennec, Pierre-Yves ; Cartron, Jean-Pierre ; Arnaud, Lionel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-02, Vol.44 (2), p.174-177
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Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria
Author / Creator:Yien, Yvette Y. ; Ducamp, Sarah ; van der Vorm, Lisa N. ; Kardon, Julia R. ; Manceau, Hana ; Kannengiesser, Caroline ; Bergonia, Hector A. ; Kafina, Martin D. ; Karim, Zoubida ; Gouya, Laurent ; Baker, Tania A. ; Puy, Hervé ; Phillips, John D. ; Nicolas, Gaël ; Paw, Barry H.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-09, Vol.114 (38), p.E8045-E8052
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ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis
Author / Creator:Helias, Virginie ; Saison, Carole ; Ballif, Bryan A ; Peyrard, Thierry ; Takahashi, Junko ; Takahashi, Hideo ; Tanaka, Mitsunobu ; Deybach, Jean-Charles ; Puy, Hervé ; Le Gall, Maude ; Sureau, Camille ; Pham, Bach-Nga ; Le Pennec, Pierre-Yves ; Tani, Yoshihiko ; Cartron, Jean-Pierre ; Arnaud, Lionel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-02, Vol.44 (2), p.170-173
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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
Author / Creator:Chen, Brenden ; Whatley, Sharon ; Badminton, Michael ; Aarsand, Aasne K. ; Anderson, Karl E. ; Bissell, D. Montgomery ; Bonkovsky, Herbert L. ; Cappellini, Maria D. ; Floderus, Ylva ; Friesema, Edith C. H. ; Gouya, Laurent ; Harper, Pauline ; Kauppinen, Raili ; Loskove, Yonina ; Martásek, Pavel ; Phillips, John D. ; Puy, Hervé ; Sandberg, Sverre ; Schmitt, Caroline ; To-Figueras, Jordi ; Weiss, Yedidyah ; Yasuda, Makiko ; Deybach, Jean-Charles ; Desnick, Robert J.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-11, Vol.21 (11), p.2605-2613
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Select record 30
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Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia
Author / Creator:Lasocki, Sigismond ; Baron, Gabriel ; Driss, Fathi ; Westerman, Mark ; Puy, Hervé ; Boutron, Isabelle ; Beaumont, Carole ; Montravers, Philippe
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Intensive care medicine, 2010-06, Vol.36 (6), p.1044-1048
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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
Author / Creator:Gouya, Laurent ; Puy, Hervé ; Robreau, Anne-Marie ; Lyoumi, Said ; Lamoril, Jérome ; Da Silva, Vasco ; Grandchamp, Bernard ; Deybach, Jean-Charles
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2004-02, Vol.114 (3), p.256-262
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Select record 32
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Crosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies
Author / Creator:Daher, Raêd ; Ducrot, Nicolas ; Lefebvre, Thibaud ; Zineeddine, Sofia ; Ausseil, Jérome ; Puy, Hervé ; Karim, Zoubida
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2022-01, Vol.12 (2), p.89
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Select record 33
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Hepcidin and Iron Deficiency in Women One Year after Sleeve Gastrectomy: A Prospective Cohort Study
Author / Creator:Lefebvre, Thibaud ; Coupaye, Muriel ; Esposito-Farèse, Marina ; Gault, Nathalie ; Talbi, Neila ; Quintin, Caroline ; Schmitt, Caroline ; Bekri, Soumeya ; Bado, André ; Puy, Hervé ; Msika, Simon ; Brasse-Lagnel, Carole ; Karim, Zoubida
Publisher:Basel: MDPI AG
Journal title:Nutrients, 2021-07, Vol.13 (8), p.2516
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Kinetics of serum hepcidin and interleukin-6 levels following COVID-19 infection in hemodialysis patients
Author / Creator:Touzot, Maxime ; Lefebvre, Thibaud ; Maheas, Catherine ; Peoc'h, Katell ; Ureña-Torres, Pablo ; Ridel, Christophe ; Puy, Hervé ; Karim, Zoubida
Publisher:England: Oxford University Press
Journal title:Clinical kidney journal, 2022-03, Vol.15 (3), p.582-583
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Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm
Author / Creator:Luck, Margaux ; Schmitt, Caroline ; Talbi, Neila ; Gouya, Laurent ; Caradeuc, Cédric ; Puy, Hervé ; Bertho, Gildas ; Pallet, Nicolas
Publisher:New York: Springer US
Journal title:Metabolomics, 2018-01, Vol.14 (1), p.10-8, Article 10
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Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies
Author / Creator:Manceau, Hana ; Puy, Vincent ; Schmitt, Caroline M. ; Gil, Sophie ; Lefebvre, Thibaud ; Allaf, Bichr ; Rosenblatt, Jonathan ; Gouya, Laurent ; Puy, Hervé ; Muller, Francoise ; Peoc’h, Katell
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2018-07, Vol.84 (1), p.80-84
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Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
Author / Creator:Thompson, Alexis A ; Walters, Mark C ; Kwiatkowski, Janet ; Rasko, John E.J ; Ribeil, Jean-Antoine ; Hongeng, Suradej ; Magrin, Elisa ; Schiller, Gary J ; Payen, Emmanuel ; Semeraro, Michaela ; Moshous, Despina ; Lefrere, Francois ; Puy, Hervé ; Bourget, Philippe ; Magnani, Alessandra ; Caccavelli, Laure ; Diana, Jean-Sébastien ; Suarez, Felipe ; Monpoux, Fabrice ; Brousse, Valentine ; Poirot, Catherine ; Brouzes, Chantal ; Meritet, Jean-François ; Pondarré, Corinne ; Beuzard, Yves ; Chrétien, Stany ; Lefebvre, Thibaud ; Teachey, David T ; Anurathapan, Usanarat ; Ho, P. Joy ; von Kalle, Christof ; Kletzel, Morris ; Vichinsky, Elliott ; Soni, Sandeep ; Veres, Gabor ; Negre, Olivier ; Ross, Robert W ; Davidson, David ; Petrusich, Alexandria ; Sandler, Laura ; Asmal, Mohammed ; Hermine, Olivier ; De Montalembert, Mariane ; Hacein-Bey-Abina, Salima ; Blanche, Stéphane ; Leboulch, Philippe ; Cavazzana, Marina
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2018-04, Vol.378 (16), p.1479-1493
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Select record 38
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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
Author / Creator:Gouya, Laurent ; Puy, Herve ; Robreau, Anne-Marie ; Bourgeois, Monique ; Lamoril, Jerôme ; Da Silva, Vasco ; Grandchamp, Bernard ; Deybach, Jean-Charles
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-01, Vol.30 (1), p.27-28
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Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm
Author / Creator:Luck, Margaux ; Schmitt, Caroline ; Talbi, Neila ; Gouya, Laurent ; Caradeuc, Cédric ; Puy, Hervé ; Bertho, Gildas ; Pallet, Nicolas
Publisher:New York: Springer US
Journal title:Metabolomics, 2018-03, Vol.14 (3), p.21-1, Article 21
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Select record 40
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Three novel mutations in the coproporphyrinogen oxidase gene
Author / Creator:Lamoril, Jérôme ; Deybach, Jean-Charles ; Puy, Hervé ; Grandchamp, Bernard ; Nordmann, Yves
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1997, Vol.9 (1), p.78-80
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Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome

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Towards a Common Definition for the Diagnosis of Iron Deficiency in Chronic Inflammatory Diseases

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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

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Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors

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Hepcidin regulates intrarenal iron handling at the distal nephron

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Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior

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Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

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ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

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Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia

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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

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Crosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies

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Hepcidin and Iron Deficiency in Women One Year after Sleeve Gastrectomy: A Prospective Cohort Study

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Kinetics of serum hepcidin and interleukin-6 levels following COVID-19 infection in hemodialysis patients

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Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

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Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies

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Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

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Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

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Three novel mutations in the coproporphyrinogen oxidase gene

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