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收藏Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure急性肝衰竭中相对可交换铜在威尔逊病诊断中的性能
Spirea, Daniela; Vanlemmens, Claire; Parant, Francois; Antonini, Teresa; Bost, Muriel; Lachaux, Alain; Belmalih, Abdelouahed; Guillaud, Olivier; Dumortier, Jerome; Couchonnal, Eduardo 分享 收藏 分享 收藏 Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis正在进行的odevixibat治疗进行性家族性肝内胆汁淤积症的开放标签单臂试验的中期结果Thompson, Richard J.; Artan, Reha; Baumann, Ulrich; Calvo, Pier Luigi; Czubkowski, Piotr; Dalgic, Buket; D'Antiga, Lorenzo; Di Giorgio, Angelo; Durmaz, Ozlem; Gonzales, Emmanuel; Grammatikopoulos, Tassos; Gupte, Girish; Hardikar, Winita; Houwen, Roderick H. J.; Kamath, Binita M.; Karpen, Saul J.; Lacaille, Florence; Lachaux, Alain; Lainka, Elke; Loomes, Kathleen M.; Mack, Cara L.; Mattsson, Jan P.; Mckiernan, Patrick; Ni, Quanhong; Ozen, Hasan; Rajwal, Sanjay R.; Roquelaure, Bertrand; Shteyer, Eyal; Sokal, Etienne; Sokol, Ronald J.; Soufi, Nisreen; Sturm, Ekkehard; Tessier, Mary Elizabeth; van der Woerd, Wendy L.; Verkade, Henkjan J.; Vittorio, Jennifer M.; Wallefors, Terese; Warholic, Natalie; Yu, Qifeng; Horn, Patrick; Kjems, Lise 分享 收藏 Human inherited complete STAT2 deficiency underlies inflammatory viral diseasesBucciol, Giorgia; Moens, Leen; Ogishi, Masato; Rinchai, Darawan; Matuozzo, Daniela; Momenilandi, Mana; Kerrouche, Nacim; Cale, Catherine M.; Treffeisen, Elsa R.; Al Salamah, Mohammad; Al-Saud, Bandar K.; Lachaux, Alain; Duclaux-Loras, Remi; Meignien, Marie; Bousfiha, Aziz; Benhsaien, Ibtihal; Shcherbina, Anna; Roppelt, Anna; COVID Human Genetic Effort, C. O. V. I. D. Human Genetic Effort; Gothe, Florian; Houhou-Fidouh, Nadhira; Hackett, Scott J.; Bartnikas, Lisa M.; Maciag, Michelle C.; Alosaimi, Mohammed F.; Chou, Janet; Mohammed, Reem W.; Freij, Bishara J.; Jouanguy, Emmanuelle; Zhang, Shen-Ping; Boisson-Dupuis, Stephanie; Beziat, Vivien; Zhang, Qian; Duncan, Christopher J. A.; Hambleton, Sophie; Casanova, Jean-Laurent; Meyts, Isabelle 分享 收藏 分享 收藏 Increase of recurrent central line-associated bloodstream infections in children with home parenteral nutrition in a rehabilitation care facility compared to home与家庭相比，在康复护理机构中进行家庭肠外营养的儿童反复发生的中央线相关血流感染增加Tourvieilhe, Laura; Jandot, Elise; Quessada, Thierry; Barreto, Christine; Marotte, Stephanie; Heissat, Sophie; Poinsot, Pierre; Sierra-Torre, Anais; Duclaux-Loras, Remi; Lachaux, Alain; Loras-Duclaux, Irene; Rabilloud, Muriel; Peretti, Noel 分享 收藏 Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trialOdevixibat治疗进行性家族性肝内胆汁淤积症: 一项随机，安慰剂对照，3期试验Thompson, Richard J.; Arnell, Henrik; Artan, Reha; Baumann, Ulrich; Calvo, Pier Luigi; Czubkowski, Piotr; Dalgic, Buket; D'Antiga, Lorenzo; Durmaz, Ozlem; Fischler, Bjorn; Gonzales, 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; Ozen, Hasan; Rajwal, Sanjay R.; Roquelaure, Bertrand; Shagrani, Mohammad; Shteyer, Eyal; Soufi, Nisreen; Sturm, Ekkehard; Tessier, Mary Elizabeth; Verkade, Henkjan J.; Horn, Patrick 分享 收藏 Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 studyMaralixibat治疗PFIC: 开放标签，2期研究中的长期IBAT抑制Loomes, Kathleen M.; Squires, Robert H.; Kelly, Deirdre; Rajwal, Sanjay; Soufi, Nisreen; Lachaux, Alain; Jankowska, Irena; Mack, Cara; Setchell, Kenneth D. R.; Karthikeyan, Palaniswamy; Kennedy, Ciara; Dorenbaum, Alejandro; Desai, Nirav K.; Garner, Will; Jaecklin, Thomas; Vig, Pamela; Miethke, Alexander; Thompson, Richard J. 分享 收藏 Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis功能缺陷型TRPV6变异可导致遗传性和家族性慢性胰腺炎Hamada, Shin; Masson, Emmanuelle; Chen, Jian-Min; Sakaguchi, Reiko; Rebours, Vinciane; Buscail, Louis; Matsumoto, Ryotaro; Tanaka, Yu; Kikuta, Kazuhiro; Kataoka, Fumiya; Sasaki, Akira; Le Rhun, Marc; Audin, Hela; Lachaux, Alain; Caumont, Bernard; Lorenzo, Diane; Billiemaz, Kareen; Besnard, Raphael; Koch, Stephane; Lamireau, Thierry; De Koninck, Xavier; Genin, Emmanuelle; Cooper, David N.; Mori, Yasuo; Masamune, Atsushi; Ferec, Claude 分享 收藏 Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiencyKaratas, Esra; Raymond, Anne-Aurelie; Leon, Celine; Dupuy, Jean-William; Di-Tommaso, Sylvaine; Senant, Nathalie; Collardeau-Frachon, Sophie; Ruiz, Mathias; Lachaux, Alain; Saltel, Frederic; Bouchecareilh, Marion 分享 收藏 Long term results of liver transplantation for alpha-1 antitrypsin deficiencyGuillaud, Olivier; Jacquemin, Emmanuel; Couchonnal, Eduardo; Vanlemmens, Claire; Francoz, Claire; Chouik, Yasmina; Conti, Filomena; Duvoux, Christophe; Hilleret, Marie-Noelle; Kamar, Nassim; Houssel-Debry, Pauline; Neau-Cransac, Martine; Pageaux, Georges-Philippe; Gonzales, Emmanuel; Ackermann, Oanez; Gugenheim, Jean; Lachaux, Alain; Ruiz, Mathias; Radenne, Sylvie; Debray, Dominique; Lacaille, Florence; McLin, Valerie; Duclos-Vallee, Jean-Charles; Samuel, Didier; Coilly, Audrey; Dumortier, Jerome 分享 收藏 A prospective case-control pilot study to evaluate bone microarchitecture in children and teenagers on long-term parenteral nutrition using HR-pQCTLouazon, Typhaine; Poinsot, Pierre; Restier, Lioara; Belmalih, Abdelouahed; Loras-Duclaux, Irene; Marotte, Stephanie; Heissat, Sophie; Barnoud, Didier; Chambrier, Cecile; Confavreux, Cyrille B.; Lachaux, Alain; Bacchetta, Justine; Peretti, Noel 分享 收藏 Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea先天性氯化物腹泻患者的炎症性肠病Norsa, Lorenzo; Canani, Roberto Berni; Duclaux-Loras, Remi; Bequet, Emeline; Koeglmeier, Jutta; Russell, Richard K.; Uhlig, Holm H.; Travis, Simon; Hollis, Jennifer; Koletzko, Sibylle; Grimaldi, Giusi; Castaldo, Giuseppe; Rodrigues, Astor; Deflandre, Jaques; Dembinski, Lukasz; Shah, Neil; Heinz-Erian, Peter; Janecke, Andreas; Leskinen, Saara; Wedenoja, Satu; Koskela, Ritva; Lachaux, Alain; Kolho, Kaija-Leena; Ruemmele, Frank M. 分享 收藏 The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisMasson, Emmanuelle; Rebours, Vinciane; Buscail, Louis; Frete, Frederique; Pagenault, Mael; Lachaux, Alain; Chevaux, Jean-Baptiste; Genin, Emmanuelle; Cooper, David N.; Ferec, Claude; Chen, Jian-Min 分享 收藏 分享 收藏 Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study (vol 12, pg 1104, 2021)Charbit-Henrion, Fabienne; Parlato, Marianna; Hanein, Sylvain; Duclaux-Loras, Remi; Nowak, Jan; Begue, Bernadette; Rakotobe, Sabine; Bruneau, Julie; Fourrage, Cecile; Alibeu, Olivier; Rieux-Laucat, Frederic; Levy, Eva; Stolzenberg, Marie-Claude; Mazerolles, Fabienne; Latour, Sylvain; Lenoir, Christelle; Fischer, Alain; Picard, Capucine; Aloi, Marina; Dias, Jorge Amil; Ben Hariz, Mongi; Bourrier, Anne; Breuer, Christian; Breton, Anne; Bronsky, Jiri; Buderus, Stephan; Cananzi, Mara; Coopman, Stephanie; Cremilleux, Clara; Dabadie, Alain; Dumant-Forest, Clementine; Gurkan, Odul Egritas; Fabre, Alexandre; Fischer, Aude; Diaz, Marta German; Gonzalez-Lama, Yago; Goulet, Olivier; Guariso, Graziella; Gurcan, Neslihan; Homan, Matjaz; Hugot, Jean-Pierre; Jeziorski, Eric; Karanika, Evi; Lachaux, Alain; Lewindon, Peter; Lima, Rosa; Magro, Fernando; Major, Janos; Malamut, Georgia; Mas, Emmanuel; Mattyus, Istvan; Mearin, Luisa M.; Melek, Jan; Navas-Lopez, Victor Manuel; Paerregaard, Anders; Pelatan, Cecile; Pigneur, Benedicte; Pais, Isabel Pinto; Rebeuh, Julie; Romano, Claudio; Siala, Nadia; Strisciuglio, Caterina; Tempia-Caliera, Michela; Tounian, Patrick; Turner, Dan; Urbonas, Vaidotas; Willot, Stephanie; Ruemmele, Frank M.; Cerf-Bensussan, Nadine 分享 收藏 分享 收藏 分享 收藏 Liver transplantation as a rescue therapy for severe neurologic forms of Wilson diseasePoujois, Aurelia; Sobesky, Rodolphe; Meissner, Wassilios G.; Brunet, Anne-Sophie; Broussolle, Emmanuel; Laurencin, Chloe; Lion-Francois, Laurence; Guillaud, Olivier; Lachaux, Alain; Maillot, Francois; Belin, Jeremie; Salame, Ephrem; Vanlemmens, Claire; Heyd, Bruno; Bellesme, Celine; Habes, Dalila; Bureau, Christophe; Ory-Magne, Fabienne; Chaine, Pascal; Trocello, Jean-Marc; Cherqui, Daniel; Samuel, Didier; de Ledinghen, Victor; Duclos-Vallee, Jean-Charles; Woimant, France 分享 收藏 
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