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PLD | Abstract Library |
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| The summaries are free for public
use. The Chronic Liver Disease
Foundation will continue to add and
archive summaries of articles deemed
relevant to CLDF by the Board of
Trustees and its Advisors. |
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| 2. | Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries |
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Dig Liver Dis. 2024 Sep 24:S1590-8658(24)01000-4. doi: 10.1016/j.dld.2024.09.002.Online ahead of print.
Pablo Alonso-Castellano 1, Antonio Tugores 2, Zoe Mariño 3, Antonio Olveira 4, Marina Berenguer 5, M Pilar Huarte 6, Jose R Fernández-Ramos 7, María Lázaro-Ríos 8, María L González-Diéguez 9, José M Moreno-Planas 10, Manuel Hernández-Guerra 11, Paula Fernández-Álvarez 12, Manuel Delgado-Blanco 13, José M Pinazo-Bandera 14, Marta Romero 15, Javier Ampuero 16, Helena Masnou-Ridaura 17, Alba Cachero 18, Víctor Vargas 19, Judith Gómez-Camarero 20, María J Morillas-Ariño 21, Esther Molina-Pérez 22, Anna Miralpeix 23, Luis García-Villarreal 24; Spanish Wilson Registry AEEH
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| 8. | Copper impairs the intestinal barrier integrity in Wilson disease |
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Metabolism. 2024 Sep:158:155973. doi: 10.1016/j.metabol.2024.155973. Epub 2024 Jul 8.
Adriana Fontes 1, Hannah Pierson 2, Joanna B Bierla 3, Carola Eberhagen 4, Jennifer Kinschel 5, Banu Akdogan 4, Tamara Rieder 5, Judith Sailer 5, Quirin Reinold 5, Joanna Cielecka-Kuszyk 3, Sylwia Szymanska 3, Frauke Neff 6, Katja Steiger 7, Olga Seelbach 7, Andree Zibert 8, Hartmut H Schmidt 8, Stefanie M Hauck 9, Christine von Toerne 9, Bernhard Michalke 10, Jeremy D Semrau 11, Ana M DiSpirito 12, João Ramalho-Santos 13, Guido Kroemer 14, Roman Polishchuk 15, Anabela Marisa Azul 16, Alan DiSpirito 12, Piotr Socha 17, Svetlana Lutsenko 2, Hans Zischka 18
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| 11. | Greater hepatic lipid saturation is associated with impaired glycaemic regulation in men with metabolic dysfunction-associated steatotic liver disease but is not altered by 6 weeks of exercise training |
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Diabetes Obes Metab. 2024 Sep;26(9):4030-4042.doi: 10.1111/dom.15755. Epub 2024 Jul 8.
Scott A Willis 1 2, Sundus Malaikah 1 2 3, Stephen J Bawden 4 5, Aron P Sherry 1 2 6, Jack A Sargeant 2 7, Nicole A Coull 2 8, Christopher R Bradley 4 5, Alex Rowlands 2 8, Iyad Naim 4 5, Gaël Ennequin 9, Thomas Yates 2 8, Ghazala Waheed 2 8, Penny Gowland 4 5, David J Stensel 1 2 10, David R Webb 2 8, Melanie J Davies 2 8, Guruprasad P Aithal 5 11, James A King 1 2
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| 18. | Performance of novel collagen turnover biomarkers to detect increased liver stiffness in MASLD |
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J Intern Med. 2024 Aug;296(2):177-186. doi: 10.1111/joim.13813. Epub 2024 Jul 3.
Hannes Hegmar 1 2, Thomas Wiggers 3, Patrik Nasr 4, Johan Vessby 5, Stergios Kechagias 4, Nils Nyhlin 6, Hanns-Ulrich Marschall 7, Åsa Danielsson Borssén 8, Rickard Strandberg 2, Morten Karsdal 3, Diana Julie Leeming 3, Mattias Ekstedt 4, Hannes Hagström 1 2
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| 23. | Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation |
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Am J Hum Genet. 2024 Jul 15:S0002-9297(24)00218-0. doi: 10.1016/j.ajhg.2024.06.011.Online ahead of print.
Melissa A Gilbert 1, Ernest Keefer-Jacques 2, Tanaya Jadhav 2, Daniel Antfolk 3, Qianqian Ming 3, Nicolette Valente 2, Grace Tzun-Wen Shaw 2, Christopher J Sottolano 4, Grace Matwijec 2, Vincent C Luca 3, Kathleen M Loomes 5, Ramakrishnan Rajagopalan 4, Tristan J Hayeck 4, Nancy B Spinner 4
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| 26. | The cost implications of Wilson disease among hospitalized patients: analysis of USA hospitals |
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Eur JGastroenterolHepatol. 2024Jul1;36(7):929940. doi:10.1097/MEG.0000000000002777.Epub 2024 Apr 23.
David Uihwan Lee 1, Ashton Harmacinski 1, Aneesh Bahadur 2, Ki Jung Lee 2, Hannah Chou 2, Mohammed Rifat Shaik 1, Harrison Chou 2, Gregory Hongyuan Fan 2, Jean Kwon 2, Reid Ponder 2, Kevin Chang 2, KeeSeok Lee 2, Zurabi Lominadze 1
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| 27. | Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial |
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Lancet Gastroenterol Hepatol. 2024 Jul;9(7):632-645.doi: 10.1016/S2468-1253(24)00074-8. Epub 2024 Apr 23.
Nadia Ovchinsky 1, Madeleine Aumar 2, Alastair Baker 3, Ulrich Baumann 4, Philip Bufler 5, Mara Cananzi 6, Piotr Czubkowski 7, Özlem Durmaz 8, Ryan Fischer 9, Giuseppe Indolfi 10, Wikrom W Karnsakul 11, Florence Lacaille 12, Way S Lee 13, Giuseppe Maggiore 14, Philip Rosenthal 15, Mathias Ruiz 16, Etienne Sokal 17, Ekkehard Sturm 18, Wendy van der Woerd 19, Henkjan J Verkade 20, Andrew Wehrman 21, Christine Clemson 22, Qifeng Yu 22, Quanhong Ni 22, Jessica Ruvido 22, Susan Manganaro 22, Jan P Mattsson 22
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| 30. | Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene |
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Stem Cell Res. 2024 Jun:77:103429. doi: 10.1016/j.scr.2024.103429. Epub 2024 Apr 29.
Omer Hatim 1, Miao Xu 1, Ivan Pavlinov 1, Kaari Linask 2, Jeanette Beers 2, Jizhong Zou 2, Chengyu Liu 3, Steven Rodems 4, Karsten Baumgärtel 4, Melissa A Gilbert 5, Nancy B Spinner 5, Catherine Chen 1, Wei Zheng 6
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| 31. | Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA |
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Hepatology. 2024 Jun 1;79(6):1279-1292.doi: 10.1097/HEP.0000000000000727. Epub 2023 Dec 25.
Bettina E Hansen 1 2 3, Shannon M Vandriel 4, Pamela Vig 5, Will Garner 5, Douglas B Mogul 5, Kathleen M Loomes 6, David A Piccoli 6, Elizabeth B Rand 6, Irena Jankowska 7, Piotr Czubkowski 7, Dorota Gliwicz-Miedzinska 7, Emmanuel M Gonzales 8, Emmanuel Jacquemin 8, Jérôme Bouligand 9, Lorenzo D'Antiga 10, Emanuele Nicastro 10, Henrik Arnell 11, Björn Fischler 12, Étienne Sokal 13, Tanguy Demaret 13, Susan Siew 14, Michael Stormon 14, Saul J Karpen 15, Rene Romero 15, Noelle H Ebel 16, Jeffrey A Feinstein 17, Amin J Roberts 18, Helen M Evans 18, Shikha S Sundaram 19, Alexander Chaidez 19, Winita Hardikar 20, Sahana Shankar 21, Ryan T Fischer 22, Florence Lacaille 23, Dominique Debray 24, Henry C Lin 25, M Kyle Jensen 26, Catalina Jaramillo 26, Palaniswamy Karthikeyan 27, Giuseppe Indolfi 28, Henkjan J Verkade 29, Catherine Larson-Nath 30, Ruben E Quiros-Tejeira 31, Pamela L Valentino 32, Maria Rogalidou 33, Antal Dezsofi 34, James E Squires 35, Kathleen Schwarz 36, Pier Luigi Calvo 37, Jesus Quintero Bernabeu 38 39, Andréanne N Zizzo 40, Gabriella Nebbia 41, Pinar Bulut 42, Ermelinda Santos-Silva 43, Rima Fawaz 44, Silvia Nastasio 45, Wikrom Karnsakul 46, María Legarda Tamara 47, Cristina Molera Busoms 48, Deirdre A Kelly 49, Thomas Damgaard Sandahl 50, Carolina Jimenez-Rivera 51, Jesus M Banales 52, Quais Mujawar 53, Li-Ting Li 54, Huiyu She 54, Jian-She Wang
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| 34. | Major Abdominal Surgery for Pediatric Crohn's Disease in the Anti-TNF Era: 10-Year Analysis of Data From the IBD Registry of Italian Society of Pediatric Gastroenterology, Hepatology, and Nutrition |
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Inflamm Bowel Dis. 2024 Jan 5:izad310. doi: 10.1093/ibd/izad310. Online ahead of print.
Patrizia Alvisi 1, Simona Faraci 2, Luca Scarallo 3 4, Marco Congiu 5, Matteo Bramuzzo 6, Maria Teresa Illiceto 7, Serena Arrigo 8, Claudio Romano 9, Giovanna Zuin 10, Erasmo Miele 11, Simona Gatti 6, Marina Aloi 12, Sara Renzo 3, Tamara Caldaro 2, Flavio Labriola 1,
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| 35. | Major Abdominal Surgery for Pediatric Crohn's Disease in the Anti-TNF Era: 10-Year Analysis of Data From the IBD Registry of Italian Society of Pediatric Gastroenterology, Hepatology, and Nutrition |
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Inflamm Bowel Dis. 2024 Jan 5:izad310. doi: 10.1093/ibd/izad310. Online ahead of print.
Patrizia Alvisi 1, Simona Faraci 2, Luca Scarallo 3 4, Marco Congiu 5, Matteo Bramuzzo 6, Maria Teresa Illiceto 7, Serena Arrigo 8, Claudio Romano 9, Giovanna Zuin 10, Erasmo Miele 11, Simona Gatti 6, Marina Aloi 12, Sara Renzo 3, Tamara Caldaro 2, Flavio Labriola 1,
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| 36. | Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases |
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Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361.eCollection 2024 Jan 1.
Johan L K Van Hove 1 2, Marisa W Friederich 1 2, Dana K Strode 1, Roxanne A Van Hove 1, Kristen R Miller 3, Rohit Sharma 4 5 6, Hardik Shah 4, Jane Estrella 1 7, Linda Gabel 2, Simon Horslen 8, Rohit Kohli 9, Mark A Lovell 2, Alexander G Miethke 10, Jean P Molleston 11, Rene Romero 12, James E Squires 8, Estella M Alonso 13, Stephen L Guthery 14 15, Binita M Kamath 16, Kathleen M Loomes 17 18, Philip Rosenthal 19, Krupa R Mysore 20, Laurel A Cavallo 20, Pamela L Valentino 21, John C Magee 22, Shikha S Sundaram 23, Ronald J Sokol 23; Childhood Liver Disease Research Network (ChiLDReN)
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| 37. | Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA |
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Hepatology. 2023 Dec 25. doi: 10.1097/HEP.0000000000000727. Online ahead of print.
Bettina E Hansen 1 2 3, Shannon M Vandriel 4, Pamela Vig 5, Will Garner 5, Douglas B Mogul 5, Kathleen M Loomes 6, David A Piccoli 6, Elizabeth B Rand 6, Irena Jankowska 7, Piotr Czubkowski 7, Dorota Gliwicz-Miedzinska 7, Emmanuel M Gonzales 8, Emmanuel Jacquemin 8, Jérôme Bouligand 9, Lorenzo D'Antiga 10, Emanuele Nicastro 10, Henrik Arnell 11, Björn Fischler 12, Étienne Sokal 13, Tanguy Demaret 13, Susan Siew 14, Michael Stormon 14, Saul J Karpen 15, Rene Romero 15, Noelle H Ebel 16, Jeffrey A Feinstein 17, Amin J Roberts 18, Helen M Evans 18, Shikha S Sundaram 19, Alexander Chaidez 19, Winita Hardikar 20, Sahana Shankar 21, Ryan T Fischer 22, Florence Lacaille 23, Dominique Debray 24, Henry C Lin 25, M Kyle Jensen 26, Catalina Jaramillo 26, Palaniswamy Karthikeyan 27, Giuseppe Indolfi 28, Henkjan J Verkade 29, Catherine Larson-Nath 30, Ruben E Quiros-Tejeira 31, Pamela L Valentino 32, Maria Rogalidou 33, Antal Dezsofi 34, James E Squires 35, Kathleen Schwarz 36, Pier Luigi Calvo 37, Jesus Quintero Bernabeu 38 39, Andréanne N Zizzo 40, Gabriella Nebbia 41, Pinar Bulut 42, Ermelinda Santos-Silva 43, Rima Fawaz 44, Silvia Nastasio 45, Wikrom Karnsakul 46, María Legarda Tamara 47, Cristina Molera Busoms 48, Deirdre Kelly 49, Thomas Damgaard Sandahl 50, Carolina Jimenez-Rivera 51, Jesus M Banales 52, Quais Mujawar 53, Li-Ting Li 54, Huiyu She 54, Jian-She Wang 54, Kyung Mo Kim
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| 38. | Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA |
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Hepatology. 2023 Dec 25. doi: 10.1097/HEP.0000000000000727. Online ahead of print.
Bettina E Hansen 1 2 3, Shannon M Vandriel 4, Pamela Vig 5, Will Garner 5, Douglas B Mogul 5, Kathleen M Loomes 6, David A Piccoli 6, Elizabeth B Rand 6, Irena Jankowska 7, Piotr Czubkowski 7, Dorota Gliwicz-Miedzinska 7, Emmanuel M Gonzales 8, Emmanuel Jacquemin 8, Jérôme Bouligand 9, Lorenzo D'Antiga 10, Emanuele Nicastro 10, Henrik Arnell 11, Björn Fischler 12, Étienne Sokal 13, Tanguy Demaret 13, Susan Siew 14, Michael Stormon 14, Saul J Karpen 15, Rene Romero 15, Noelle H Ebel 16, Jeffrey A Feinstein 17, Amin J Roberts 18, Helen M Evans 18, Shikha S Sundaram 19, Alexander Chaidez 19, Winita Hardikar 20, Sahana Shankar 21, Ryan T Fischer 22, Florence Lacaille 23, Dominique Debray 24, Henry C Lin 25, M Kyle Jensen 26, Catalina Jaramillo 26, Palaniswamy Karthikeyan 27, Giuseppe Indolfi 28, Henkjan J Verkade 29, Catherine Larson-Nath 30, Ruben E Quiros-Tejeira 31, Pamela L Valentino 32, Maria Rogalidou 33, Antal Dezsofi 34, James E Squires 35, Kathleen Schwarz 36, Pier Luigi Calvo 37, Jesus Quintero Bernabeu 38 39, Andréanne N Zizzo 40, Gabriella Nebbia 41, Pinar Bulut 42, Ermelinda Santos-Silva 43, Rima Fawaz 44, Silvia Nastasio 45, Wikrom Karnsakul 46, María Legarda Tamara 47, Cristina Molera Busoms 48, Deirdre Kelly 49, Thomas Damgaard Sandahl 50, Carolina Jimenez-Rivera 51, Jesus M Banales 52, Quais Mujawar 53
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| 39. | Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study |
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Hepatology. 2023 Feb 1;77(2):512-529. doi: 10.1002/hep.32761.Epub 2022 Oct 13.
Shannon M Vandriel 1, Li-Ting Li 2, Huiyu She 2, Jian-She Wang 2, Melissa A Gilbert 3, Irena Jankowska 4, Piotr Czubkowski 4, Dorota Gliwicz-Miedzinska 4, Emmanuel M Gonzales 5, Emmanuel Jacquemin 5, Jérôme Bouligand 6, Nancy B Spinner 3, Kathleen M Loomes 7, David A Piccoli 7, Lorenzo D'Antiga 8, Emanuele Nicastro 8, Étienne Sokal 9, Tanguy Demaret 9, Noelle H Ebel 10, Jeffrey A Feinstein 11, Rima Fawaz 12, Silvia Nastasio 13, Florence Lacaille 14, Dominique Debray 15, Henrik Arnell 16 17, Björn Fischler 16 18, Susan Siew 19, Michael Stormon 19, Saul J Karpen 20, Rene Romero 20, Kyung Mo Kim 21, Woo Yim Baek 21, Winita Hardikar 22, Sahana Shankar 23, Amin J Roberts 24, Helen M Evans 24, M Kyle Jensen 25, Marianne Kavan 25, Shikha S Sundaram 26, Alexander Chaidez 26, Palaniswamy Karthikeyan 27, Maria Camila Sanchez 28, Maria Lorena Cavalieri 28, Henkjan J Verkade 29, Way Seah Lee 30, James E Squires 31, Christina Hajinicolaou 32, Chatmanee Lertudomphonwanit 33, Ryan T Fischer 34, Catherine Larson-Nath 35, Yael Mozer-Glassberg 36, Cigdem Arikan 37, Henry C Lin 38, Jesus Quintero Bernabeu 39, Seema Alam 40, Deirdre A Kelly 41, Elisa Carvalho 42, Cristina Targa Ferreira 43, Giuseppe Indolfi 44, Ruben E Quiros-Tejeira 45, Pinar Bulut 46, Pier Luigi Calvo 47, Zerrin Önal 48, Pamela L Valentino
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| 42. | Predicting liver-related events in NAFLD: A predictive model |
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Hepatology. 2023 Oct 1;78(4):1240-1251. doi: 10.1097/HEP.0000000000000356.Epub 2023 Mar 31.
Luis Calzadilla-Bertot 1, Gary P Jeffrey 1 2, Zhengyi Wang 1, Yi Huang 1, George Garas 2, Michael Wallace 1 2, Bastiaan de Boer 3, Jacob George 4, Mohammed Eslam 4, Amy Phu 4, Javier Ampuero 5, Ana Lucena Valera 5, Manuel Romero-Gómez 5, Rocio Aller de la Fuente 6, Leon A Adams 1 2
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| 43. | Liver Investigation: Testing Marker Utility in Steatohepatitis (LITMUS): Assessment & validation of imaging modality performance across the NAFLD spectrum in a prospectively recruited cohort study (the LITMUS imaging study): Study protocol |
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Contemp Clin Trials. 2023 Nov:134:107352. doi: 10.1016/j.cct.2023.107352. Epub 2023 Oct 4.
Michael Pavlides 1, Ferenc E Mózes 2, Salma Akhtar 2, Kristy Wonders 3, Jeremy Cobbold 4, Elizabeth M Tunnicliffe 5, Michael Allison 6, Edmund M Godfrey 7, Guruprasad P Aithal 8, Susan Francis 9, Manuel Romero-Gomez 10, Javier Castell 11, Isabel Fernandez-Lizaranzu 11, Rocio Aller 12, Rebeca Sigüenza González 13, Salvador Agustin 14, Juan M Pericàs 14, Jerome Boursier 15, Christophe Aube 16, Vlad Ratziu 17, Mathilde Wagner 18, Salvatore Petta 19, Michela Antonucci 20, Elisabetta Bugianesi 21, Riccardo Faletti 22, Luca Miele 23, Andreas Geier 24, Jörn M Schattenberg 25, Emrich Tilman 26, Mattias Ekstedt 27, Peter Lundberg 28, Annalisa Berzigotti 29, Adrian T Huber 30, George Papatheodoridis 31, Hannele Yki-Järvinen 32, Kimmo Porthan 32, Moritz Jörg Schneider 33, Paul Hockings 33, Elizabeth Shumbayawonda 34, Rajarshi Banerjee 34, Kay Pepin 35, Mike Kalutkiewicz 35, Richard L Ehman 36, Aldo Trylesinksi 37, Harvey O Coxson 38; LITMUS Consortium Investigators; Miljen Martic 39, Carla Yunis 40, Theresa Tuthill 40, Patrick M Bossuyt 41, Quentin M Anstee 3, Stefan Neubauer 5, Stephen Harrison 2
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| 53. | Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease |
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Clin Genet. 2023 Aug;104(2):174-185. doi: 10.1111/cge.14352. Epub 2023 May 9.
Amelie Stalke 1 2, Annika Behrendt 3, Finja Hennig 1, Holger Gohlke 3 4, Nicole Buhl 1 2, Thea Reinkens 1, Ulrich Baumann 2, Brigitte Schlegelberger 1, Thomas Illig 5, Eva-Doreen Pfister 2, Britta Skawran 1
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| 58. | Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy |
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JHEP Rep. 2023 Jul 13;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. eCollection 2023 Oct.
Emmanuel Gonzales 1 2, Antoine Gardin 1 2, Marion Almes 1 2, Amaria Darmellah-Remil 1, Hanh Seguin 1, Charlotte Mussini 3, Stéphanie Franchi-Abella 4, Mathieu Duché 1 4, Oanez Ackermann 1 2, Alice Thébaut 1 2, Dalila Habes 1 2, Bogdan Hermeziu 1 2, Martine Lapalus 2, Thomas Falguières 2, Jean-Philippe Combal 5, Bernard Benichou 5, Sonia Valero 5, Anne Davit-Spraul 6 2, Emmanuel Jacquemin 1 2
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| 69. | Predictors of 6-year event-free survival in alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor |
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Hepatology. 2023 Jun 7. doi: 10.1097/HEP.0000000000000502. Online ahead of print.
Ronald J Sokol 1, Emmanuel M Gonzales 2, Binita M Kamath 3, Alastair Baker 4, Pamela Vig 5, Douglas B Mogul 5, Will Garner 5, Bettina E Hansen 6, Emmanuel Jacquemin 2, Richard J Thompson 7
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| 81. | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants |
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Am J Med Genet A. 2023 Mar 21. doi: 10.1002/ajmg.a.63185. Online ahead of print.
Pagna Sok 1, Aniko Sabo 2, Lynn M Almli 3, Mary M Jenkins 3, Wendy N Nembhard 4, A J Agopian 5, Michael J Bamshad 6 7, Elizabeth E Blue 7 8, Lawrence C Brody 9, Austin L Brown 1, Marilyn L Browne 10 11, Mark A Canfield 12, Suzan L Carmichael 13, Jessica X Chong 6 7, Shannon Dugan-Perez 2, Marcia L Feldkamp 14, Richard H Finnell 15, Richard A Gibbs 2, Denise M Kay 16, Yunping Lei 15, Qingchang Meng 2, Cynthia A Moore 3, James C Mullikin 9, Donna Muzny 2, Andrew F Olshan 17, Faith Pangilinan 9, Jennita Reefhuis 3, Paul A Romitti 18, Jeremy M Schraw 1, Gary M Shaw 13, Martha M Werler 19, Sanjiv Harpavat 1 20, Philip J Lupo 1; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study
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| 83. | Major Depressive Disorder in an International Multisite Wilson Disease Registry |
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J Acad Consult Liaison Psychiatry. 2023 Mar-Apr;64(2):106-117. doi: 10.1016/j.jaclp.2022.12.001.Epub 2022 Dec 13.
Michelle A Camarata 1, Aftab Ala 2, Ayse K Coskun 3, Yanhong Deng 4, Veysel K Embel 3, Regino Gonzalez-Peralta 5, Kaitlin R Maciejewski 4, Amar Patel 6, Susan Rubman 7, Uyen To 3, Ricarda Tomlin 3, Michael L Schilsky 3, Paula C Zimbrean 8
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| 87. | Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial |
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Lancet Gastroenterol Hepatol. 2022 Dec;7(12):1092-1102.doi: 10.1016/S2468-1253(22)00270-9. Epub 2022 Sep 30.
Michael L Schilsky 1, Anna Czlonkowska 2, Massimo Zuin 3, David Cassiman 4, Carlos Twardowschy 5, Aurelia Poujois 6, Francisco de Assis A Gondim 7, Gerald Denk 8, Rubens G Cury 9, Peter Ott 10, Joanna Moore 11, Aftab Ala 12, Renata D'Inca 13, Eduardo Couchonnal-Bedoya 14, Koenraad D'Hollander 15, Nicolas Dubois 15, C Omar F Kamlin 16, Karl Heinz Weiss 17; CHELATE trial investigators
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| 88. | Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation |
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Children (Basel). 2022 Dec 14;9(12):1964. doi: 10.3390/children9121964.
Anna M Kavallar 1, Franka Messner 2, Stefan Scheidl 2, Rupert Oberhuber 2, Stefan Schneeberger 2, Denise Aldrian 1, Valeria Berchtold 2, Murat Sanal 2, Andreas Entenmann 1, Simon Straub 1, Anna Gasser 1, Andreas R Janecke 1 3, Thomas Müller 1, Georg F Vogel 1 4
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| 91. | Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study |
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Mov Disord. 2022 Dec 27. doi: 10.1002/mds.29292. Online ahead of print.
Christelle Nilles 1 2, Mickael Alexandre Obadia 1 2, Rodolphe Sobesky 3, Jérôme Dumortier 4 5, Olivier Guillaud 4 6, Chloé Laurencin 4 7, Caroline Moreau 8, Claire Vanlemmens 9, Fabienne Ory-Magne 10, Victor de Ledinghen 11, Edouard Bardou-Jacquet 12, Frederique Fluchère 13, Corinne Collet 2 14, Nouzha Oussedik-Djebrani 2 15, France Woimant 2, Aurélia Poujois 1 2
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| 94. | Sex differences and risk factors for bleeding in Alagille syndrome |
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EMBO Mol Med. 2022 Nov 8;e15809. doi: 10.15252/emmm.202215809. Online ahead of print.
Simona Hankeova 1 2, Noemi Van Hul 1, Jakub Laznovsky 3, Elisabeth Verboven 1, Katrin Mangold 1, Naomi Hensens 1 4, Csaba Adori 5, Elvira Verhoef 1 4, Tomas Zikmund 3, Feven Dawit 6, Michaela Kavkova 3, Jakub Salplachta 3, Marika Sjöqvist 1, Bengt R Johansson 7, Mohamed G Hassan 8 9, Linda Fredriksson 10, Karsten Baumgärtel 11, Vitezslav Bryja 2, Urban Lendahl 1, Andrew Jheon 8, Florian Alten 12, Kristina Teär Fahnehjelm 13 14, Björn Fischler 6, Jozef Kaiser 3, Emma R Andersson 1
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| 99. | High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson's disease |
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Hepatology. 2021 Mar 5. doi: 10.1002/hep.31787. Online ahead of print.
Daan B E van Wessel 1, Richard J Thompson 2, Emmanuel Gonzales 3 4, Irena Jankowska 4 5, Benjamin L Shneider 6 7, Etienne Sokal 4 8, Tassos Grammatikopoulos 2, Agustina Kadaristiana 2, Emmanuel Jacquemin 3 9, Anne Spraul 9 10, Patryk Lipinski 4 5, Piotr Czubkowski 4 5, Nathalie Rock 8, Mohammad Shagrani 11 12, Dieter Broering 11, Talal Algoufi 11, Nejat Mazhar 11, Emanuele Nicastro 13, Deirdre Kelly 4 14, Gabriella Nebbia 15, Henrik Arnell 4 16, Björn Fischler 4 16, Jan B F Hulscher 4 17, Daniele Serranti 18, Cigdem Arikan 19, Dominique Debray 20, Florence Lacaille 20, Cristina Goncalves 4 21, Loreto Hierro 4 22, Gema Muñoz Bartolo 4 22, Yael Mozer-Glassberg 23, Amer Azaz 24, Jernej Brecelj 25, Antal Dezsofi 26, Pier Luigi Calvo 27, Dorothee Krebs-Schmitt 28, Steffen Hartleif 4 29, Wendy L van der Woerd 30, Jian-She Wang 31, Li-Ting Li 31, Özlem Durmaz 32, Nanda Kerkar 33, Marianne Hørby Jørgensen 4 34, Ryan Fischer 35, Carolina Jimenez-Rivera 36, Seema Alam 37, Mara Cananzi 4 38, Noémie Laverdure 4 39, Cristina Targa Ferreira 40, Felipe Ordonez 41, Heng Wang 42, Valerie Sency 42, Kyung Mo Kim 43, Huey-Ling Chen 44, Elisa Carvalho 45, Alexandre Fabre 46, Jesus Quintero Bernabeu 4 | | | | | | | |
