Search Results - "Puy, Herve"

Porphyrias by Puy, Hervé, Prof, Gouya, Laurent, Prof, Deybach, Jean-Charles, Prof

“…Summary Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms,…”
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Erythropoietic protoporphyrias: updates and advances by Poli, Antoine, Schmitt, Caroline, Puy, Hervé, Talbi, Neila, Lefebvre, Thibaud, Gouya, Laurent

“…Erythropoietic protoporphyria (EPP) is a pseudodominant/recessive genetic disease that manifests itself principally as severely debilitating…”
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Gene Therapy in a Patient with Sickle Cell Disease by Ribeil, Jean-Antoine, Hacein-Bey-Abina, Salima, Payen, Emmanuel, Magnani, Alessandra, Semeraro, Michaela, Magrin, Elisa, Caccavelli, Laure, Neven, Benedicte, Bourget, Philippe, El Nemer, Wassim, Bartolucci, Pablo, Weber, Leslie, Puy, Hervé, Meritet, Jean-François, Grevent, David, Beuzard, Yves, Chrétien, Stany, Lefebvre, Thibaud, Ross, Robert W, Negre, Olivier, Veres, Gabor, Sandler, Laura, Soni, Sandeep, de Montalembert, Mariane, Blanche, Stéphane, Leboulch, Philippe, Cavazzana, Marina

“…A boy with hydroxyurea-refractory sickle cell anemia underwent bone marrow transplantation with autologous hematopoietic stem cells transduced by a lentivirus…”
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Porphyrias: A 2015 update by Karim, Zoubida, Lyoumi, Said, Nicolas, Gael, Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé

“…Summary The hereditary porphyrias comprise a group of eight metabolic disorders of the heme biosynthesis pathway. Each porphyria is caused by abnormal function…”
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A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease by Tchernitchko, Dimitri, Tavernier, Quentin, Lamoril, Jérôme, Schmitt, Caroline, Talbi, Neila, Lyoumi, Said, Robreau, Anne-Marie, Karim, Zoubida, Gouya, Laurent, Thervet, Eric, Karras, Alexandre, Puy, Hervé, Pallet, Nicolas

“…CKD occurs in most patients with acute intermittent porphyria (AIP). During AIP, -aminolevulinic acid (ALA) accumulates and promotes tubular cell death and…”
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Quantification of Urine and Plasma Porphyrin Precursors Using LC–MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients by Poli, Antoine, Manceau, Hana, Nguyen, Anvi Laetitia, Moulouel, Boualem, Dessendier, Nathalie, Talbi, Neila, Puy, Hervé, Junot, Christophe, Gouya, Laurent, Schmitt, Caroline, Lefebvre, Thibaud

“…Abstract Background The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and…”
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High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria by Pallet, Nicolas, Mami, Iadh, Schmitt, Caroline, Karim, Zoubida, François, Arnaud, Rabant, Marion, Nochy, Dominique, Gouya, Laurent, Deybach, Jean-Charles, Xu-Dubois, Yichum, Thervet, Eric, Puy, Hervé, Karras, Alexandre

“…Acute intermittent porphyria (AIP) is a genetic disorder of the synthesis of heme caused by a deficiency in hydroxymethylbilane synthase (HMBS), leading to the…”
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From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria by Lenglet, Hugo, Schmitt, Caroline, Grange, Thomas, Manceau, Hana, Karboul, Narjesse, Bouchet-Crivat, Florian, Robreau, Anne-Marie, Nicolas, Gael, Lamoril, Jerôme, Simonin, Sylvie, Mirmiran, Arienne, Karim, Zoubida, Casalino, Enrique, Deybach, Jean-Charles, Puy, Hervé, Peoc'h, Katell, Gouya, Laurent

“…Abstract Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS)…”
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Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias by Peoc'h, Katell, Nicolas, Gaël, Schmitt, Caroline, Mirmiran, Arienne, Daher, Raed, Lefebvre, Thibaud, Gouya, Laurent, Karim, Zoubida, Puy, Hervé

“…Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly…”
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Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome by 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

“…The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the…”
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Porphyria and kidney diseases by Pallet, Nicolas, Karras, Alexandre, Thervet, Eric, Gouya, Laurent, Karim, Zoubida, Puy, Hervé

“…Abstract The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins…”
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Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1 by Rio, Sarah, Gastou, Marc, Karboul, Narjesse, Derman, Raphaёl, Suriyun, Thunwarat, Manceau, Hana, Leblanc, Thierry, El Benna, Jamel, Schmitt, Caroline, Azouzi, Slim, Larghéro, Jérome, Karim, Zoubida, Macias-Garcia, Alejandra, Chen, Jane-Jane, Hermine, Olivier, Courtois, Geneviève, Puy, Hervé, Gouya, Laurent, Mohandas, Narla, Da Costa, Lydie

“…Diamond-Blackfan anemia (DBA) is a congenital erythroblastopenia that is characterized by a blockade in erythroid differentiation related to impaired ribosome…”
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Neglected Comorbidity of Chronic Heart Failure: Iron Deficiency by Manceau, Hana, Ausseil, Jérome, Masson, Damien, Feugeas, Jean-Paul, Sablonniere, Bernard, Guieu, Régis, Puy, Hervé, Peoc’h, Katell

“…Iron deficiency is a significant comorbidity of heart failure (HF), defined as the inability of the myocardium to provide sufficient blood flow. However, iron…”
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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria by Mirmiran, Arienne, Poli, Antoine, Ged, Cecile, Schmitt, Caroline, Lefebvre, Thibaud, Manceau, Hana, Daher, Raêd, Moulouel, Boualem, Peoc'h, Katell, Simonin, Sylvie, Blouin, Jean-Marc, Deybach, Jean-Charles, Nicolas, Gaël, Puy, Hervé, Richard, Emmanuel, Gouya, Laurent

“…Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by impaired activity of uroporphyrinogen III synthase, the fourth enzyme…”
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GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia by Daher, Raêd, Mansouri, Abdellah, Martelli, Alain, Bayart, Sophie, Manceau, Hana, Callebaut, Isabelle, Moulouel, Boualem, Gouya, Laurent, Puy, Hervé, Kannengiesser, Caroline, Karim, Zoubida

“…Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme…”
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Iron deficiency diagnosed using hepcidin on critical care discharge is an independent risk factor for death and poor quality of life at one year: an observational prospective study on 1161 patients by Lasocki, Sigismond, Lefebvre, Thibaud, Mayeur, Claire, Puy, Hervé, Mebazaa, Alexandre, Gayat, Etienne

“…Iron deficiency is difficult to diagnose in critically ill patients, but may be frequent and may impair recovery. Measurement of hepcidin could help in the…”
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Systemic Administered mRNA as Therapy for Metabolic Diseases by Puy, Hervé, Deybach, Jean-Charles, Gouya, Laurent

“…The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent…”
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Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword by Peoc'h, Katell, Manceau, Hana, Karim, Zoubida, Wahlin, Staffan, Gouya, Laurent, Puy, Hervé, Deybach, Jean-Charles

“…Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and…”
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Towards a Common Definition for the Diagnosis of Iron Deficiency in Chronic Inflammatory Diseases by Cacoub, Patrice, Choukroun, Gabriel, Cohen-Solal, Alain, Luporsi, Elisabeth, Peyrin-Biroulet, Laurent, Peoc'h, Katell, Andrieu, Valérie, Lasocki, Sigismond, Puy, Hervé, Trochu, Jean-Noël

“…Iron deficiency (ID) in patients with chronic inflammatory diseases is frequent. However, under-diagnosis is also frequent due to the heterogeneity between…”
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Iron deficiency screening is a key issue in chronic inflammatory diseases: A call to action by Cacoub, Patrice, Choukroun, Gabriel, Cohen‐Solal, Alain, Luporsi, Elisabeth, Peyrin‐Biroulet, Laurent, Peoc'h, Katell, Andrieu, Valérie, Lasocki, Sigismond, Puy, Hervé, Trochu, Jean‐Noël

“…Iron deficiency is frequent in patients with chronic inflammatory conditions (e.g., chronic heart failure, chronic kidney disease, cancers, and bowel…”
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