未登录 Genetic landscape of pediatric acute liver failure of indeterminate origin Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger 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
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial Odevixibat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
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Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes Kok, Gautam; Verstegen, Monique M. A.; Houwen, Roderick H. J.; Nieuwenhuis, Edward E. S.; Metselaar, Herold J.; Polak, Wojciech G.; van der Laan, Luc J. W.; Spierings, Eric; den Hoed, Caroline M.; Fuchs, Sabine A. 分享 收藏
Mutation-specific reporter for optimization and enrichment of prime editing Schene, I. F.; Joore, I. P.; Baijens, J. H. L.; Stevelink, R.; Kok, G.; Shehata, S.; Ilcken, E. F.; Nieuwenhuis, E. C. M.; Bolhuis, D. P.; van Rees, R. C. M.; Spelier, S. A.; van der Doef, H. P. J.; Beekman, J. M.; Houwen, R. H. J.; Nieuwenhuis, E. E. S.; Fuchs, S. A. 分享 收藏
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations van Vugt, Anke H. M.; Bijvelds, Marcel J. C.; de Jonge, Hugo R.; Meijsen, Kelly F.; Restin, Tanja; Bryant, Manuel B.; Ballauff, Antje; Koot, Bart; Mueller, Thomas; Houwen, Roderick H. J.; Janecke, Andreas R.; Middendorp, Sabine 分享 收藏
Aminoacyl-tRNA synthetase deficiencies in search of common themes (vol 21, pg 319, 2019) Fuchs, Sabine A.; Schene, Imre F.; Kok, Gautam; Jansen, Jurriaan M.; Nikkels, Peter G. J.; van Gassen, Koen L. I.; Terheggen-Lagro, Suzanne W. J.; van der Crabben, Saskia N.; Hoeks, Sanne E.; Niers, Laetitia E. M.; Wolf, Nicole I.; de Vries, Maaike C.; Koolen, David A.; Houwen, Roderick H. J.; Mulder, Margot F.; van Hasselt, Peter M. 分享 收藏
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease 直接测量ATP7B肽在诊断Wilson病方面非常有效 Collins, Christopher J.; Yi, Fan; Dayuha, Remwilyn; Duong, Phi; Horslen, Simon; Camarata, Michelle; Coskun, Ayse K.; Houwen, Roderick H. J.; Pop, Tudor L.; Zoller, Heinz; Yoo, Han-Wook; Jung, Sung Won; Weiss, Karl H.; Schilsky, Michael L.; Ferenci, Peter; Hahn, Si Houn 分享 收藏
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease Ozen, Ahmet; Kasap, Nurhan; Vujkovic-Cvijin, Ivan; Apps, Richard; Cheung, Foo; Karakoc-Aydiner, Elif; Akkelle, Bilge; Sari, Sinan; Tutar, Engin; Ozcay, Figen; Uygun, Dilara Kocacik; Islek, Ali; Akgun, Gamze; Selcuk, Merve; Sezer, Oya Balci; Zhang, Yu; Kutluk, Gunsel; Topal, Erdem; Sayar, Ersin; Celikel, Cigdem; Houwen, Roderick H. J.; Bingol, Aysen; Ogulur, Ismail; Eltan, Sevgi Bilgic; Snow, Andrew L.; Lake, Camille; Fantoni, Giovanna; Alba, Camille; Sellers, Brian; Chauvin, Samuel D.; Dalgard, Clifton L.; Harari, Olivier; Ni, Yan G.; Wang, Ming-Dauh; Devalaraja-Narashimha, Kishor; Subramanian, Poorani; Ergelen, Rabia; Artan, Reha; Guner, Sukru Nail; Dalgic, Buket; Tsang, John; Belkaid, Yasmine; Ertem, Deniz; Baris, Safa; Lenardo, Michael J. 分享 收藏
DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells (vol 60, pg 1787, 2019) van Rijn, Jorik M.; van Hoesel, Marliek; de Heus, Cecilia; van Vugt, Anke H. M.; Klumperman, Judith; Nieuwenhuis, Edward E. S.; Houwen, Roderick H. J.; Middendorp, Sabine 分享 收藏
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Disease progression in paediatric- and adult-onset sclerosing cholangitis: Results from two independent Dutch registries Joosse, Maria E.; Haisma, Sjoukje M.; Sterk, Marlou F. M.; van Munster, Kim N.; Ponsioen, Cyriel I. J.; Houwen, Roderick H. J.; Koot, Bart G. P.; de Meij, Tim; van Rheenen, Patrick F.; de Koning, Barbara A. E. 分享 收藏
Cirrhosis associated with decreased survival and a 10-year lower median age at death of cystic fibrosis patients in the Netherlands Pals, F. H.; Verkade, H. J.; Gulmans, V. A. M.; De Koning, B. A. E.; Koot, B. G. P.; De Meij, T. G. J.; Hendriks, D. M.; Gierenz, N.; Vreugdenhil, A. C. E.; Houwen, R. H. J.; Bodewes, F. A. J. A. 分享 收藏
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Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease 年龄和性别而非ATP7B基因型有效影响Wilson病的临床表型 Ferenci, Peter; Stremmel, Wolfgang; Czlonkowska, Anna; Szalay, Ferenc; Viveiros, Andre; Staettermayer, Albert Friedrich; Bruha, Radan; Houwen, Roderick; Pop, Tudor Lucian; Stauber, Rudolf; Gschwantler, Michael; Pfeiffenberger, Jan; Yurdaydin, Cihan; Aigner, Elmar; Steindl-Munda, Petra; Dienes, Hans-Peter; Zoller, Heinz; Weiss, Karl Heinz 分享 收藏
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