Syndromic (phenotypic) diarrhea in early infancy

Autor: Bodemer Christine, Brousse Nicole, Roquelaure Bertrand, Vinson Christine, Goulet Olivier, Cézard Jean-Pierre

Publikováno v: Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p 6 (2008)

Abstract Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiologi

Externí odkaz: https://doaj.org/article/5c0f23479d1b4345bc64579bb46a8411

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group

Autor: Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, De Mestier, Louis, Degand, Thibault, D'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet D'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Le Rhun, Marc, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Bai, Chen-Guang, Bian, Yun, Cai, Zhen-Zhai, Chang, Xiao-Yan, Chen, Guo-Dong, Cheng, Li, Chen, Yu, Guo, Jin-Tao, Guo, Tao, Han, Jun-Ling, He, Chao-Hui, Hu, Liang-Hao, Huang, Hao-Jie, Huang, Li, Huang, Li-Ya, Huang, Si-Lin, Huang, Wei, Jiang, Fei, Jiang, Hui, Lu, Feng-Chun, Lu, Guo-Tao, Lu, Zi-Peng, Li, Hui-Ping, Li, Jing, Li, Le, Li, Qiang, Li, Xiao-Yu, Lin, Qing, Lin, Yu-Li, Liu, Gai-Fang, Liu, Jie-Min, Liu, Li-Xin, Liu, Pi, Liu, Yi-Pin, Lu, Dong, Shao, Xiao-Dong, Shao, Zhuo, Song, Xu-Rui, Wang, Lei, Wang, Li-Juan, Wang, Li-Sheng, Wang, Lin, Wang, Wei, Wang, Zheng, Wen, Li, Wu, Xi, Xin, Lei, Xue, Jing, Yang, Hong, Yang, Jian-Feng, Yin, Tao, Zhang, Bei-Ping, Zhang, Guo-Wei, Zhang, Hong, Zhang, Rong-Chun, Zhao, Yi-Jun, Zhou, Si-Si, Zhu, Ke-Xiang, Masson, Emmanuelle, Zou, Wen-Bin, Pu, Na, Génin, Emmanuelle, Wu, Hao, Lin, Jin-Huan, Wang, Yuan-Chen, Li, Zhao-Shen, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian-Min

Publikováno v: In Pancreatology August 2023 23(5):491-506

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

Autor: Thompson, Richard J ^*, Arnell, Henrik, Artan, Reha, Baumann, Ulrich, Calvo, Pier Luigi, Czubkowski, Piotr, Dalgic, Buket, D'Antiga, Lorenzo, Durmaz, Özlem, Fischler, Björn, Gonzalès, Emmanuel, Grammatikopoulos, Tassos, Gupte, Girish, Hardikar, Winita, Houwen, Roderick H J, Kamath, Binita M, Karpen, Saul J, Kjems, Lise, Lacaille, Florence, Lachaux, Alain, Lainka, Elke, Mack, Cara L, Mattsson, Jan P, McKiernan, Patrick, Özen, Hasan, Rajwal, Sanjay R, Roquelaure, Bertrand, Shagrani, Mohammad, Shteyer, Eyal, Soufi, Nisreen, Sturm, Ekkehard, Tessier, Mary Elizabeth, Verkade, Henkjan J, Horn, Patrick

Publikováno v: In The Lancet Gastroenterology & Hepatology September 2022 7(9):830-842

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Autor: Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre

Publikováno v: In The American Journal of Human Genetics 1 March 2018 102(3):364-374

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis

Autor: Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, Dalstein, Véronique, De Mestier, Louis, Degand, Thibault, d'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet d'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Masson, Emmanuelle, Berthet, Stéphanie, Le Gac, Gerald, Le Rhun, Marc, Ka, Chandran, Autret, Sandrine, Gourlaouen, Isabelle, Cooper, David N., Férec, Claude, Chen, Jian-Min

Publikováno v: In Pancreatology August 2023 23(5):507-511