Zobrazeno 11 - 20
of 318
pro vyhledávání: '"Alain Lachaux"'
Autor:
Camille Donnet, Sylvie Destombe, Alain Lachaux, Laurent Michaud, Valérie Triolo, Sophie Heissat, Jean-Louis Stephan, Hugues Patural
Publikováno v:
Endoscopy International Open, Vol 08, Iss 07, Pp E830-E833 (2020)
Background and study aims Eosinophilic esophagitis (EoE) is a chronic immune disease with increasing incidence. It is clinically defined by symptoms of esophageal dysfunction and histologically by eosinophilic polynuclear cell infiltration of the eso
Externí odkaz:
https://doaj.org/article/b064f36bfb184c25984ddbc8256b37ff
Autor:
Caroline Demily, François Parant, David Cheillan, Emmanuel Broussolle, Alice Pavec, Olivier Guillaud, Lioara Restier, MOPSY Consortium, Alain Lachaux, Muriel Bost
Publikováno v:
Annals of General Psychiatry, Vol 16, Iss 1, Pp 1-8 (2017)
Abstract Background Wilson’s disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with
Externí odkaz:
https://doaj.org/article/1d67d3ca25fa4f90bbd934bee2643c75
Autor:
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179369 (2017)
The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the fre
Externí odkaz:
https://doaj.org/article/7cf097c7bb7d421ca4fb799dbd93f347
Autor:
Elodie Peyroux, Nelly Santaella, Emmanuel Broussolle, Caroline Rigard, Emilie Favre, Anne-Sophie Brunet, Muriel Bost, Alain Lachaux, Caroline Demily
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0173467 (2017)
Studies focusing on neuropsychological impairments in Wilson's disease (WD) have highlighted that patients showing neurological signs present significant deficits in a wide range of cognitive domains. Attentional and executive impairments have also b
Externí odkaz:
https://doaj.org/article/f60f20d864b54364958c573bb3329c7d
Publikováno v:
Case Reports in Medicine, Vol 2009 (2009)
Sarcoidose is a rare disease in children. The aminotransaminase level is often normal to moderately elevated (2 to 3 folds of the normal level). We report the case of a child who presented an aminotransaminase level that was 10 times the normal level
Externí odkaz:
https://doaj.org/article/05be5e829be64304a385555c7336a102
Autor:
Mounzer Koudsi, Christine Martinez-Vinson, Bénédicte Pigneur, Stéphanie Willot, Djeddi Djamal, Raphael Enaud, Julie Rebeuh, Claire Dupont, Alain Dabadie, Valérie Bertrand, Jean-Pierre Hugot, Alain Lachaux, Franck Ruemmele, Jérôme Viala, Rémi Duclaux-Loras, GETAID Pédiatrique
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 76:763-770
Autor:
Richard J Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Özlem Durmaz, Björn Fischler, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H J Houwen, Binita M Kamath, Saul J Karpen, Lise Kjems, Florence Lacaille, Alain Lachaux, Elke Lainka, Cara L Mack, Jan P Mattsson, Patrick McKiernan, Hasan Özen, Sanjay R Rajwal, Bertrand Roquelaure, Mohammad Shagrani, Eyal Shteyer, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Henkjan J Verkade, Patrick Horn
Publikováno v:
The lancet. Gastroenterology & hepatology, 7(9), 830-842. HANLEY & BELFUS-ELSEVIER INC
Thompson, R J, Arnell, H, Artan, R, Baumann, U, Calvo, P L, Czubkowski, P, Dalgic, B, D'Antiga, L, Durmaz, Ö, Fischler, B, Gonzalès, E, Grammatikopoulos, T, Gupte, G, Hardikar, W, Houwen, R H J, Kamath, B M, Karpen, S J, Kjems, L, Lacaille, F, Lachaux, A, Lainka, E, Mack, C L, Mattsson, J P, McKiernan, P, Özen, H, Rajwal, S R, Roquelaure, B, Shagrani, M, Shteyer, E, Soufi, N, Sturm, E, Tessier, M E, Verkade, H J & Horn, P 2022, ' Odevixibat treatment in progressive familial intrahepatic cholestasis : a randomised, placebo-controlled, phase 3 trial ', The Lancet Gastroenterology & Hepatology . https://doi.org/10.1016/S2468-1253(22)00093-0
Thompson, R J, Arnell, H, Artan, R, Baumann, U, Calvo, P L, Czubkowski, P, Dalgic, B, D'Antiga, L, Durmaz, Ö, Fischler, B, Gonzalès, E, Grammatikopoulos, T, Gupte, G, Hardikar, W, Houwen, R H J, Kamath, B M, Karpen, S J, Kjems, L, Lacaille, F, Lachaux, A, Lainka, E, Mack, C L, Mattsson, J P, McKiernan, P, Özen, H, Rajwal, S R, Roquelaure, B, Shagrani, M, Shteyer, E, Soufi, N, Sturm, E, Tessier, M E, Verkade, H J & Horn, P 2022, ' Odevixibat treatment in progressive familial intrahepatic cholestasis : a randomised, placebo-controlled, phase 3 trial ', The Lancet Gastroenterology & Hepatology . https://doi.org/10.1016/S2468-1253(22)00093-0
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseases resulting from mutations in genes that impact bile secretion. We aimed to evaluate the effects of odevixibat, an ileal bile acid transp
Autor:
Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Cécile Jeanpierre, Kalman Tory, Olivia Boyer, Anita Burgun, Aude Servais, Remi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié-Bitach, Valerie Comier-Daire, Jean-Michel Rozet, Yaacov Frishberg, Brigitte Llanas, Michel Broyer, Nabil Mohsin, Marie-Alice Macher, Nicole Philip, Véronique Baudouin, Damian Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, Claude Guyot, Pierre Bataille, Mariet Elting, Georges Deschenes, Andrea Gropman, Geneviève Guest, Marie-France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, Albert Bensman, Anne-Marie Guerrot, Bertrand Knebelmann, Ilmay Bilge, Danièle Bruno, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Eric Bieth, Sophie Gie, Judith Goodship, Gwenaelle Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane Benoît, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, Michele Kessler, Theresa Kwon, Anine Lahoche, Audrey Laurent, Anne-Laure Leclerc, David Milford, Thomas Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadikoglu, Christine Barnerias, Anne Barthelemy, Lina Basel, Nader Bassilios, Hedi Ben Maiz, Fatma Ben Moussa, Faïza Benmati, Romain Berthaud, Aurélia Bertholet, Dominique Blanchier, Jean Jacques Boffa, Karim Bouchireb, Ihab Bouhabel, Zakaria Boukerroucha, Guylhène Bourdat-Michel, Odile Boute, Karine Brochard, Roseline Caumes, Siham Chafai Elalaoui, Bernard Chamontin, Marie Caroline Chastang, Christine Pietrement, Christine Richer, Christophe Legendre, Karin Dahan, Fabienne Dalla-Vale, Damien Thibaudin, Maxime Dauvergne, Salandre Davourie, Martin Debeukelaer, Jean Daniel Delbet, Constantinos Deltas, Denis Graber, Nadège Devillars, Boucar Diouf, Martine Doco Fenzy, Jean-Luc André, Dominique Joly, Alan Fryer, Laetitia Albano, Elisabeth Cassuto, Aline Pincon, Ana Medeira, Annabelle Chaussenot, Anne Mensire-Marinier, Francois Bouissou, Stephane Decramer, Armand Bottani, Aurélie Hummel, Alexandre Karras, Avi Katz, Christine Azema, Bénédicte Janbon, Bernard Roussel, Claude Bonniol, Christiophe Mariat, Gérard Champion, Deborah Chantreuil, Nicolas Chassaing, Christiane Mousson, Christine Baudeau, Delphine Hafdar Cuntz, Cyril Mignot, Laurene Dehoux, Didier Lacombe, Thierry Hannedouche, Elodie Mérieau, Emmanuelle Charlin, Eric Gauthier, Florent Plasse, Stanislas Faguer, Fanny Lebas, Florence Demurger, Francesco Emma, François Cartault, Geneviève Dumont, Nathalie Godefroid, Vincent Guigonis, Sophie Hillaire, Jaap Groothoff, Jan Dudley, Noémie Jourde-Chiche, Khalil El Karoui, Saoussen Krid, Krier Coudert, Larbi Bencheick, Laurent Yver, Marie-Pierre Lavocat, Le Monies De Sagazan, Valerie Leroy, Lise Thibaudin, Liz Ingulli, Lorraine Gwanmesia, Lydie Burglen, Marie-Hélène Saïd-Menthon, Marta Carrera, Mathilde Nizon, Catherine Melander, Michel Foulard, Monique Blayo, Jacques Prinseau, Nadine Jay, Nathalie Brun, Nicolas Camille, François Nobili, Olivier Devuyst, Ouafa Ben Brahim, Paloma Parvex, Laurence Perrin Sabourin, Philippe Blanc, Philippe Vanhille, Pierre Galichon, Sophie Pierrepont, Vincent Planquois, Gwenaelle Poussard, Claire Pouteil Noble, Radia Allal, Raphaelle Bernard, Raynaud Mounet, Rémi Cahen, Renaud Touraine, Claire Rigothier, Amélie Ryckewaert, Mathieu Sacquepee, Salima El Chehadeh, Charlotte Samaille, Shuman Haq, Ari Simckes, Stéphanie Lanoiselée, Stephanie Tellier, Jean-François Subra, Sylvie Cloarec, Julie Tenenbam, Thomas Lamy, Valérie Drouin Garraud, Huguette Valette, Vanina Meyssonnier, Rosa Vargas-Poussou, Yves Snajer, Sandrine Durault, Emmanuelle Plaisier, Etienne Berard, Fadi Fakhouri, Ferielle Louillet, Paul Finielz, Michel Fischbach, Bernard Foliguet, Hélène Francois-Pradier, Florentine Garaix, Marion Gerard, Gianfranco Rizzoni, Brigitte Gilbert, Denis Glotz, Astrid Godron Dubrasquet, Jean-Pierre Grünfeld, Guillaume Bollee, Michelle Hall, Sverker Hansson, Damien Haye, Hélène Taffin, Friedhelm Hildebrandt, Maryvonne Hourmand, Hümya Kayserili, Ivan Tack, Marie Line Jacquemont, Jennifer Fabre-Teste, Cliff Kashtan, Kkoen Van Hoeck, Alexandre Klein, Yannick Knefati, Nine Knoers, Martin Konrad, Alain Lachaux, Isabelle Landru, Gilbert Landthaler, Philippe Lang, Patrick Le Pogamp, Tristan Legris, Catherine Didailler, Thierry Lobbedez, Loïc de Parscau, Lucile Pinson, Hervé Maheut, Marc Duval-Arnould, Marlène Rio, Marie-Claire Gubler, Pierre Merville, Guillaume Mestrallet, Maite Meunier, Karine Moreau, Jérôme Harambat, Graeme Morgan, Georges Mourad, Niksic Stuber, Odile Boespflug-Tanguy, Olivier Dunand, Olivier Niel, Nacera Ouali, Paolo Malvezzi, Pauline Abou Jaoude, Solenne Pelletier, Julie Peltier, M.B. Petersen, Philippe Michel, Philippe Rémy, Jean-Baptiste Philit, Valérie Pichault, Thierry Billette de Villemeur, Bernard Boudailliez, Bruno Leheup, Claire Dossier, Djamal-Dine Djeddi, Yves Berland, Bruno Hurault de Ligny, Susan Rigden, Christophe Robino, Annick Rossi, Sabine Sarnacki, Messaoud Saidani, Albane Brodin Sartorius, Elise Schäfer, Sztriha Laszlo, Marie-Christine Thouret, Angélique Thuillier-Lecouf, Howard Trachtman, Claire Trivin, Michel Tsimaratos, Rita Van Damme-Lombaerts, Marjolaine Willems, Michel Youssef, Ariane Zaloszyc, Alexis Zawodnik, Marie-Julia Ziliotis
Publikováno v:
INSERM–Necker Hospital NPH collaborative group 2023, ' The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies ', Kidney International . https://doi.org/10.1016/j.kint.2023.05.007
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of pa
Autor:
Michael L Schilsky, Anna Czlonkowska, Massimo Zuin, David Cassiman, Carlos Twardowschy, Aurelia Poujois, Francisco de Assis A Gondim, Gerald Denk, Rubens G Cury, Peter Ott, Joanna Moore, Aftab Ala, Renata D'Inca, Eduardo Couchonnal-Bedoya, Koenraad D'Hollander, Nicolas Dubois, C Omar F Kamlin, Karl Heinz Weiss, Uyen To, Amar Patel, Daksshi Hettiarachchi, Alessia Giorgini, Sara Monico, Tomasz Litwin, Agnieszka Piechal, Marta Skowronska, Alain Lachaux, Abdelouahed Belmalih, Alexandra Boogers, Isabelle Mohr, Andrea Langel, Christian Freitas, Egberto Reis Barbosa, Thomas D Sandahl, Lisbet Gerdes, Alexandre Obadia, Djamila Rahli, Jeremy Cosgrove
Publikováno v:
CHELATE trial investigators 2022, ' Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE) : a randomised, open-label, non-inferiority, phase 3 trial ', The Lancet Gastroenterology and Hepatology, vol. 7, no. 12, pp. 1092-1102 . https://doi.org/10.1016/S2468-1253(22)00270-9
Background: Wilson disease is an inherited disorder of copper transport. Whereas penicillamine is used therapeutically to re-establish copper balance, trientine is indicated for patients with penicillamine intolerance. We aimed to compare penicillami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc08a6d996987fd1d2dba0c63b14f359
https://pure.au.dk/portal/da/publications/trientine-tetrahydrochloride-versus-penicillamine-for-maintenance-therapy-in-wilson-disease-chelate(ba317b8b-40a9-4b06-9881-6e93f059c2ea).html
https://pure.au.dk/portal/da/publications/trientine-tetrahydrochloride-versus-penicillamine-for-maintenance-therapy-in-wilson-disease-chelate(ba317b8b-40a9-4b06-9881-6e93f059c2ea).html
Autor:
Emma Wischlen, Olivier Boillot, Christine Rivet, Alain Lachaux, Raymonde Bouvier, Valérie Hervieu, Jean‐Yves Scoazec, Sophie Collardeau‐Frachon, Jérôme Dumortier, Noémie Laverdure
Publikováno v:
Clinical transplantation.
The role of protocol liver biopsies (PLB) in the follow-up of pediatric liver transplant (LT) recipients remains questionable. This single-center retrospective study aimed to evaluate their clinical impact on the long-term management of pediatric LT