Search Results - "Simonin, Sylvie"

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

“…Objectives To assess the performance of 405 nm–induced autofluorescence for the characterization of primary liver nodules on ex vivo resected specimens…”
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Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria by Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Da Silva, Vasco, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles

“…Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of ferrochelatase (FECH). Recently, we…”
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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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A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria by Bustad, Helene J., Toska, Karen, Schmitt, Caroline, Vorland, Marta, Skjærven, Lars, Kallio, Juha P., Simonin, Sylvie, Letteron, Philippe, Underhaug, Jarl, Sandberg, Sverre, Martinez, Aurora

“…Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele…”
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Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria by Mirmiran, Arienne, Schmitt, Caroline, Lefebvre, Thibaud, Manceau, Hana, Daher, Raêd, Oustric, Vincent, Poli, Antoine, Lacapère, Jean-Jacques, Moulouel, Boualem, Puy, Hervé, Karim, Zoubida, Peoc'h, Katell, Lenglet, Hugo, Simonin, Sylvie, Deybach, Jean-Charles, Nicolas, Gaël, Gouya, Laurent

“…Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for…”
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Photodynamic therapy of ovarian cancer peritoneal metastasis with hexaminolevulinate: A toxicity study by Guyon, Laurie, Farine, Marie-Odile, Lesage, Jean Claude, Gevaert, Anne-Marie, Simonin, Sylvie, Schmitt, Caroline, Collinet, Pierre, Mordon, Serge, Ph.D

“…Highlights • We studied the toxicity of PDT with hexaminolevulinate for the treatment of peritoneal carcinomatosis. • Treatment was performed in a rat model. •…”
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