日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Echocardiography, Bile Acids and Spleen Stiffness to Rule Out High-Risk Varices in Children With Biliary Atresia

超声心动图、胆汁酸和脾脏硬度检查可排除胆道闭锁患儿的高危静脉曲张

Lambert, Virginie; Teglas, Jean-Paul; Ackermann, Oanez; Franchi-Abella, Stéphanie; Tiret, Alice; Veil, Raphaël; Bernard, Olivier; Gonzales, Emmanuel; Jacquemin, Emmanuel; Duché, Mathieu

Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues

罗斯科维汀类似物对缺陷型ABCB4变体转运拯救作用的分子特征

Banet, Manon; Crespi, Veronica; Elie, Jonathan; Riahi, Yosra; Lakli, Mounia; Mareux, Elodie; Gonzales, Emmanuel; Jacquemin, Emmanuel; Meijer, Laurent; Lapalus, Martine; Di Meo, Florent; Falguières, Thomas

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway

对患有自身免疫性肝炎的儿童进行全外显子组测序,发现参与 mTORC1 信号通路的基因存在突变

Gaigne, Léa-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pellé, Olivier; Schvartz, Adrien; Perin, Mélodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallée, Jean-Charles; Arkwright, Peter D; Rieux-Laucat, Frédéric; Jacquemin, Emmanuel; Magerus, Aude

Condition-Specific Growth Charts for Children With Alagille Syndrome

阿拉吉尔综合征患儿的特定生长曲线图

Huysentruyt, Koen; Vandriel, Shannon M; Roelants, Mathieu; Piccoli, David A; Loomes, Kathleen M; Rand, Elizabeth B; Ebel, Noelle H; Feinstein, Jeffrey A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Karpen, Saul J; Romero, Rene; Lin, Henry C; Fischler, Björn; Arnell, Henrik; Li, Li-Ting; Wang, Jian-She; Fawaz, Rima; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischer, Ryan T; Siew, Susan M; Stormon, Michael; Lertudomphonwanit, Chatmanee; Hardikar, Winita; Shankar, Sahana; Squires, James E; Sundaram, Shikha S; Larson-Nath, Catherine; Kelly, Deirdre A; Hartley, Jane; Bulut, Pinar; Jensen, M Kyle; Jaramillo, Catalina; Roberts, Amin J; Evans, Helen M; Sokal, Étienne M; Demaret, Tanguy; Verkade, Henkjan J; Thompson, Richard J; Hansen, Bettina E; Cole, Tim J; Kamath, Binita M; Debray, Dominique; Lacaille, Florence; Brecelj, Jernej; El-Koofy, Nehal M; Elmonem, Mohamed A; Lee, Way Seah; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Hajinicolaou, Christina; Schwarz, Kathleen B; Carvalho, Elisa; Rock, Nathalie; Karnsakul, Wikrom; Quiros-Tejeira, Ruben E; Alam, Seema; Nebbia, Gabriella; Mozer-Glassberg, Yael; Valentino, Pamela L; Santos-Silva, Ermelinda; Önal, Zerrin; Dezsofi-Gottl, Antal; Melere, Melina; Legarda Tamara, María; Eshun, John; Zellos, Aglaia; Indolfi, Giuseppe; Rogalidou, Maria; Blondet, Niviann; Luigi Calvo, Pier; Beretta, Marisa; Zizzo, Andréanne N; Arikan, Cigdem; Kasahara, Mureo; Kerkar, Nanda; Aqul, Amal A; Wolters, Victorien M; Borges Pinto, Raquel; Quintero Bernabeu, Jesus; Garcia, Jennifer; Wiecek, Sabina; Tzivinikos, Christos; Mujawar, Quais; Jimenez-Rivera, Carolina; Molera Busoms, Cristina; Gonçalves, Cristina; Bujanda, Luis

Comment on opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis

对进行性家族性肝内胆汁淤积症的诊断和治疗的意见书的评论

Gonzales, Emmanuel; Thompson, Richard J; Jacquemin, Emmanuel

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

JAG1 和 NOTCH2 相关阿拉吉尔综合征的表型差异及疾病特异性 NOTCH2 变异分类指南

Vandriel, Shannon M; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Loomes, Kathleen M; Piccoli, David A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; D'Antiga, Lorenzo; Nicastro, Emanuele; Lacaille, Florence; Debray, Dominique; Sokal, Étienne M; Demaret, Tanguy; Fawaz, Rima L; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; Fischler, Björn; Arnell, Henrik; Larson-Nath, Catherine; Hardikar, Winita; Shankar, Sahana; Sundaram, Shikha S; Chaidez, Alexander; Bulut, Pinar; Calvo, Pier Luigi; Kasahara, Mureo; Blondet, Niviann; Lurz, Eberhard; Kavallar, Anna-Maria; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Ebel, Noelle H; Feinstein, Jeffrey A; Siew, Susan M; Stormon, Michael O; Karpen, Saul J; Romero, Rene; Jensen, M Kyle; Jaramillo, Catalina; Squires, James E; Bedoyan, Sarah M; Kelly, Deirdre A; Hartley, Jane; Verkade, Henkjan J; Lee, Way Seah; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Lin, Henry C; Rock, Nathalie; Mozer-Glassberg, Yael; Roberts, Amin J; Evans, Helen M; Karnsakul, Wikrom; Nebbia, Gabriella; Wolters, Victorien M; Valentino, Pamela L; Bernabeu, Jesus Quintero; Aqul, Amal A; Arikan, Cigdem; Tamara, María Legarda; Busoms, Cristina Molera; Sandahl, Thomas Damgaard; Indolfi, Giuseppe; Zizzo, Andréanne N; Zellos, Aglaia; Quiros-Tejeira, Ruben E; Santos-Silva, Ermelinda; Schwarz, Kathleen B; Brecelj, Jernej; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Tzivinikos, Christos; Wiecek, Sabina; Eshun, John; Kerkar, Nanda; Mujawar, Quais; Önal, Zerrin; Gonçalves, Cristina; Garcia, Jennifer; Alam, Seema; Jimenez-Rivera, Carolina; Bujanda, Luis; Thompson, Richard J; Hansen, Bettina E; Spinner, Nancy B; Gilbert, Melissa A; Kamath, Binita M

Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group

血清胆汁酸水平升高预示阿拉吉勒综合征患儿肝脏预后不良:GALA研究组的结果

Perez, Carla Fiorella Murillo; Vandriel, Shannon M; Gonzales, Emmanuel M; Wang, Jian-She; Li, Li-Ting; She, Huiyu; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; Jacquemin, Emmanuel; Bouligand, Jérôme; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischler, Björn; Arnell, Henrik; Siew, Susan M; Stormon, Michael; Loomes, Kathleen M; Piccoli, David A; Rand, Elizabeth B; Squires, James E; Karpen, Saul J; Romero, Rene; Kasahara, Mureo; Önal, Zerrin; Sokal, Étienne; Demaret, Tanguy; Wiecek, Sabina; Lacaille, Florence; Debray, Dominique; Hardikar, Winita; Shankar, Sahana; Valentino, Pamela L; Sundaram, Shikha S; Ebel, Noelle H; Feinstein, Jeffrey A; Waisbourd-Zinman, Orith; Lin, Henry C; Rock, Nathalie; Verkade, Henkjan J; Jensen, M Kyle; Jaramillo, Catalina; Kim, Kyung Mo; Oh, Seak Hee; Brecemiclj, Jernej; Alam, Seema; Indolfi, Giuseppe; Blondet, Niviann; Fawaz, Rima; Nastasio, Silvia; Calvo, Pier Luigi; Nebbia, Gabriella; Arikan, Cigdem; Larson-Nath, Catherine; Zizzo, Andréanne N; Sandahl, Thomas Damgaard; Tzivinikos, Christos; El-Koofy, Nehal M; Elmonem, Mohamed A; Aqul, Amal A; Karnsakul, Wikrom; Bulut, Pinar; Kerkar, Nanda; Wolters, Victorien M; Roberts, Amin J; Evans, Helen M; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Kelly, Deirdre A; Hartley, Jane; Lee, Way Seah; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Bernabeu, Jesus Quintero; Quiros-Tejeira, Ruben E; Ferreira, Cristina Targa; Carvalho, Elisa; Eshun, John; Zellos, Aglaia; Dezsőfi, Antal; Pinto, Raquel Borges; Schwarz, Kathleen; Rogalidou, Maria; Garcia, Jennifer; Tamara, María Legarda; Beretta, Marisa; Mujawar, Quais; Santos-Silva, Ermelinda; Busoms, Cristina Molera; Lurz, Eberhard; Gonçalves, Cristina; Jimenez-Rivera, Carolina; Banales, Jesus M; Thompson, Richard J; Hansen, Bettina E; Kamath, Binita M

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.

纠正导致进行性家族性肝内胆汁淤积症 2 型的交通缺陷错义 ABCB11 变异

Lapalus Martine, Mareux Elodie, Amzal Rachida, Drège Emmanuelle, Riahi Yosra, Petit Sylvain, Banet Manon, Falguières Thomas, Callebaut Isabelle, Figadère Bruno, Joseph Delphine, Gonzales Emmanuel, Jacquemin Emmanuel

Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

奥德维西巴治疗伴有 MYO5B 变异的进行性家族性肝内胆汁淤积症:回顾性病例系列研究

Roquelaure, Bertrand; Sciveres, Marco; Grammatikopoulos, Tassos; Lurz, Eberhard; Freudenberg, Folke; Habes, Dalila; Thevathasan, Lionel; Elaraki, Fatine; Gonzales, Emmanuel

Update on pediatric liver transplantation in Europe 2022: An ELITA-ESPGHAN report

2022年欧洲儿童肝移植最新进展:ELITA-ESPGHAN报告

Junge, Norman; Karam, Vincent; Hartog, Hermien; Adam, Rene; Cailliez, Valérie; Indolfi, Giuseppe; Samyn, Marianne; Stephenne, Xavier; Pop, Tudor Lucian; Waisbourd-Zinman, Orit; Kohlmaier, Benno; Zellos, Aglaia; Mancell, Sara; Gonzales, Emmanuel; Nicastro, Emanuele; Quintero, Jesus; Richter, Nicolas; Heaton, Nigel; Reding, Raymond; Branchereau, Sophie; Gupte, Girish; Schmelzle, Moritz; Fischer, Lutz; Kalicinski, Piotr; Colledan, Michele; Santamaria, Manuel Lopez; de Kleine, Ruben H; Fitzpatrick, Emer