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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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| 3. | 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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| 4. | 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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| 7. | 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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| 10. | 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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| 15. | 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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Mol Ther Methods Clin Dev. 2022 Jun 9;26:98-106. doi:10.1016/j.omtm.2022.06.001.eCollection 2022 Sep 8.
Oihana Murillo 1, Maria Collantes 2 3, Cristina Gazquez 1, Daniel Moreno 1, Ruben Hernandez-Alcoceba 1, Miren Barberia 1, Margarita Ecay 3, Blanche Tamarit 4, Anne Douar 4, Veronica Ferrer 4, Jean Philippe Combal 4, Ivan Peñuelas 2 3, Bernard Bénichou 4, Gloria Gonzalez-Aseguinolaza 1 5
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| 17. | Maralixibat Treatment Response in Alagille Syndrome Is Associated with Improved Health-Related Quality of Life |
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J Pediatr. 2022 Sep 9;S0022-3476(22)00791-0. doi: 10.1016/j.jpeds.2022.09.001.Online ahead of print.
Binita M Kamath 1, Andrea Goldstein 2, Robin Howard 2, Will Garner 2, Pamela Vig 2, Jessica R Marden 3, Emma Billmyer 3, Annika Anderson 3, Noam Kirson 3, Emmanuel Jacquemin 4, Emmanuel Gonzales 4
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| 20. | Neuroimaging Correlates of Cognitive Deficits in Wilson's Disease |
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Mov Disord 2022 Aug;37(8):1728-1738. doi: 10.1002/mds.29123. Epub 2022 Jun 20.
Samuel Shribman 1, Maggie Burrows 1, Rhian Convery 2, Martina Bocchetta 2, Carole H Sudre 3 4 5, Julio Acosta-Cabronero 6, David L Thomas 2 7 8, Godfrey T Gillett 9, Emmanuel A Tsochatzis 10, Oliver Bandmann 11, Jonathan D Rohrer 2, Thomas T Warner 1
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| 24. | 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. 2022 Aug 29. doi: 10.1002/hep.32761. Online ahead of print.
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, David A Piccoli, Lorenzo D'Antiga 7, Emanuele Nicastro 7, Étienne Sokal 8, Tanguy Demaret 8, Noelle H Ebel 9, Jeffrey A Feinstein 10, Rima Fawaz 11, Silvia Nastasio 12, Florence Lacaille 13, Dominique Debray 14, Henrik Arnell 15, Björn Fischler 16, Susan Siew 17, Michael Stormon 17, Saul J Karpen 18, Rene Romero 18, Kyung Mo Kim 19, Woo Yim Baek 19, Winita Hardikar 20, Sahana Shankar 21, Amin J Roberts 22, Helen M Evans 22, M Kyle Jensen 23, Marianne Kavan 23, Shikha S Sundaram 24, Alexander Chaidez 24, Palaniswamy Karthikeyan 25, Maria Camila Sanchez 26, Maria Lorena Cavalieri 26, Henkjan J Verkade 27, Way Seah Lee 28, James E Squires 29, Christina Hajinicolaou 30, Chatmanee Lertudomphonwanit 31, Ryan T Fischer 32, Catherine Larson-Nath 33, Yael Mozer-Glassberg 34, Cigdem Arikan 35, Henry C Lin 36, Jesus Quintero Bernabeu 37, Seema Alam 38, Deirdre Kelly 39, Elisa Carvalho 40, Cristina Targa Ferreira 41, Giuseppe Indolfi 42, Ruben E Quiros-Tejeira 43, Pinar Bulut 44, Pier Luigi Calvo 45, Zerrin Önal 46, Pamela L Valentino 11, Dev M Desai 47, John Eshun 48, Maria Rogalidou 49, Antal Dezsofi 50, Sabina Wiecek 51, Gabriella Nebbia 52, Raquel Borges Pinto 53, Victorien M Wolters 54, María Legarda Tamara 55, Andréanne N Zizzo 56, Jennifer Garcia 57< |
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| 28. | Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial |
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Lancet Gastroenterol Hepatol. 2022 Sep;7(9):830-842.doi: 10.1016/S2468-1253(22)00093-0. Epub 2022 Jul 1.
Richard J Thompson 1, Henrik Arnell 2, Reha Artan 3, Ulrich Baumann 4, Pier Luigi Calvo 5, Piotr Czubkowski 6, Buket Dalgic 7, Lorenzo D'Antiga 8, Özlem Durmaz 9, Björn Fischler 10, Emmanuel Gonzalès 11, Tassos Grammatikopoulos 12, Girish Gupte 13, Winita Hardikar 14, Roderick H J Houwen 15, Binita M Kamath 16, Saul J Karpen 17, Lise Kjems 18, Florence Lacaille 19, Alain Lachaux 20, Elke Lainka 21, Cara L Mack 22, Jan P Mattsson 18, Patrick McKiernan 13, Hasan Özen 23, Sanjay R Rajwal 24, Bertrand Roquelaure 25, Mohammad Shagrani 26, Eyal Shteyer 27, Nisreen Soufi 28, Ekkehard Sturm 29, Mary Elizabeth Tessier 30, Henkjan J Verkade 31, Patrick Horn 18
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| 30. | Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants |
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Hum Mutat. 2022 Jul 12. doi: 10.1002/humu.24433. Online ahead of print.
Jotte Rodrigues Bento 1, Alice Krebsová 2, Ilse Van Gucht 1, Irene Valdivia Callejon 1, An Van Berendoncks 3, Pavel Votypka 4, Ilse Luyckx 1 5, Petra Peldova 4, Steven Laga 6, Marek Havelka 4, Lut Van Laer 1, Pavel Trunecka 7, Nele Boeckx 1, Aline Verstraeten 1, Milan Macek 4, Josephina A N Meester 1, Bart Loeys 1 5
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| 32. | Metallothionein immunohistochemistry has high sensitivity and specificity for detection of Wilson disease |
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Mod Pathol. 2022 Jul;35(7):946-955. doi: 10.1038/s41379-021-01001-7. Epub 2021 Dec 21.
Daniel J Rowan 1, Kiran K Mangalaparthi 2, Smrita Singh 2 3 4, Roger K Moreira 1, Taofic Mounajjed 1, Laura Lamps 5, Maria Westerhoff 5, Jerome Cheng 5, Andrew M Bellizzi 6, Daniela S Allende 7, Akhilesh Pandey 2, Rondell P Graham 8
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| 33. | Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease |
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Hepatol Commun. 2022 Jul;6(7):1611-1619. doi: 10.1002/hep4.1922. Epub 2022 Mar 10.
Marlene Panzer 1 2, André Viveiros 1, Benedikt Schaefer 1, Nadja Baumgartner 1, Klaus Seppi 3, Atbin Djamshidian 3, Theodor Todorov 4, William J H Griffiths 5, Eckart Schott 6, Markus Schuelke 7, Dennis Eurich 8, Albert Friedrich Stättermayer 9, Adrian Bomford 10, Pierre Foskett 10, Julia Vodopiutz 11, Rudolf Stauber 12, Elke Pertler 1 13, Bernhard Morell 14, Herbert Tilg 1, Thomas Müller 15, Stefan Kiechl 3, Raul Jimenez-Heredia 16 17 18, Karl Heinz Weiss 19, Si Houn Hahn 20, Andreas Janecke 15, Peter Ferenci 9, Heinz Zoller 1 13
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| 37. | Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis |
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Diagnostics (Basel). 2022 May 7;12(5):1169. doi: 10.3390/diagnostics12051169.
Marion Almes 1 2 3, Anne Spraul 2 3 4, Mathias Ruiz 5, Muriel Girard 6, Bertrand Roquelaure 7, Nolwenn Laborde 8, Fréderic Gottrand 9, Anne Turquet 10, Thierry Lamireau 11, Alain Dabadie 12, Marjorie Bonneton 13, Alice Thebaut 1 2, Babara Rohmer 5, Florence Lacaille 6, Pierre Broué 8, Alexandre Fabre 7, Karine Mention-Mulliez 9, Jérôme Bouligand 3 14 15, Emmanuel Jacquemin 1 2 3, Emmanuel Gonzales 1 2 3
Affiliations
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| 39. | Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome |
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Hepatol Commun. 2022 Jun 7. doi: 10.1002/hep4.1992. Online ahead of print.
Benjamin L Shneider 1, Catherine A Spino 2, Binita M Kamath 3, John C Magee 2, Rosalinda V Ignacio 2, Suiyuan Huang 2, Simon P Horslen 4, Jean P Molleston 5, Alexander G Miethke 6, Rohit Kohli 7 8, Daniel H Leung 1, M Kyle Jensen 9, Kathleen M Loomes 10, Saul J Karpen 11, Cara Mack 12, Philip Rosenthal 13, Robert H Squires 14, Alastair Baker 15, Sanjay Rajwal 16, Deirdre Kelly 17, Ronald J Sokol 13, Richard J Thompson 15, for ChiLDReN and UK IMAGO/IMAGINE Investigators
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| 40. | Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency |
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Pediatr Gastroenterol Nutr. 2022 Feb 1;74(2):192-199. doi: 10.1097/MPG.0000000000003322.
Pascual Lorente-Arencibia 1, Luis García-Villarreal 1, Rafaela González-Montelongo 2 3, Luis A Rubio-Rodríguez 2, Carlos Flores 2 3 4 5, Paloma Garay-Sánchez 1, Tanausú delaCruz 1, Milagros Santana-Verano 1, Francisco Rodríguez-Esparragón 6, Juana N Benitez-Reyes 7, Fernando Fernández-Fuertes 7, Antonio Tugores 1
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| 42. | The pathophysiology of Wilson's disease visualized: A human 64 Cu PET study |
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Hepatology. 2022 Jun;75(6):1461-1470. doi: 10.1002/hep.32238. Epub 2022 Jan 10.
Thomas Damgaard Sandahl 1, Lars C Gormsen 2, Kristoffer Kjaergaard 1 2, Mikkel Holm Vendelbo 2, Ditte Emilie Munk 1, Ole Lajord Munk 2, Dirk Bender 2, Susanne Keiding 1 2, Karina H Vase 2, Kim Frisch 2, Hendrik Vilstrup 1, Peter Ott 1
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| 43. | Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study |
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Hepatol Commun. 2022 May 4. doi: 10.1002/hep4.1980. Online ahead of print.
Kathleen M Loomes 1 2, Robert H Squires 3 4, Deirdre Kelly 5 6, Sanjay Rajwal 7, Nisreen Soufi 8 9, Alain Lachaux 10, Irena Jankowska 11, Cara Mack 12, Kenneth D R Setchell 13 14, Palaniswamy Karthikeyan 7, Ciara Kennedy 15, Alejandro Dorenbaum 16, Nirav K Desai 17, Will Garner 18, Thomas Jaecklin 19, Pamela Vig 18, Alexander Miethke 20 14, Richard J Thompson 21
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| 44. | Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome |
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Hepatol Commun. 2022 May 4. doi: 10.1002/hep4.1970. Online ahead of print.
Benjamin L Shneider 1, Binita M Kamath 2, John C Magee 3, Nathan P Goodrich 4, Kathleen M Loomes 5, Wen Ye 3, Cathie Spino 3, Estella M Alonso 6, Jean P Molleston 7, Jorge A Bezerra 8, Kasper S Wang 9, Saul J Karpen 10, Simon P Horslen 11, Stephen L Guthery 12, Philip Rosenthal 13, Robert H Squires 14, Ronald J Sokol 15, Childhood Liver Disease Research Network (ChiLDReN)
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| 45. | Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study |
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Brain. 2022 Mar 29;145(1):263-275. doi: 10.1093/brain/awab274.
Samuel Shribman 1, Martina Bocchetta 2, Carole H Sudre 3 4 5, Julio Acosta-Cabronero 6, Maggie Burrows 1, Paul Cook 7, David L Thomas 2 8 9, Godfrey T Gillett 10, Emmanuel A Tsochatzis 11, Oliver Bandmann 12, Jonathan D Rohrer 2, Thomas T Warner 1
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| 47. | Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver |
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Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-575.doi: 10.1016/S2468-1253(22)00004-8. Epub 2022 Apr 13.\
Samuel Shribman 1, Thomas Marjot 2, Abubakar Sharif 3, Sunitha Vimalesvaran 4, Aftab Ala 5, Graeme Alexander 6, Anil Dhawan 4, James Dooley 6, Godfrey T Gillett 7, Deirdre Kelly 3, Alisdair McNeill 8, Thomas T Warner 1, Valerie Wheater 9, William Griffiths 10, Oliver Bandmann 11, British Association for the Study of the Liver Rare Diseases Special Interest Group
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| 49. | Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review |
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Liver Int. 2022 May;42(5):1084-1096. doi: 10.1111/liv.15200. Epub 2022 Mar 15.
Eva-Doreen Pfister 1, Carola Dröge 2 3, Roman Liebe 2, Amelie Stalke 1 4, Nicole Buhl 1 4, Antje Ballauff 5, Tobias Cantz 6, Eva Bueltmann 7, Jan Stindt 2, Tom Luedde 2, Ulrich Baumann 1 8, Verena Keitel 2 3
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| 50. | Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study |
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Orphanet J Rare Dis. 2022 Feb 2;17(1):32. doi: 10.1186/s13023-022-02177-0.
Claudia Mighiu 1, Sonia O'Hara 2, Enrico Ferri Grazzi 2, Karen F Murray 3, Jörn M Schattenberg 4, Emily Ventura 5, Melanie Karakaidos 5, Alison Taylor 6, Harpreet Brrang 6, Anil Dhawan 7, Jose Willemse 8, Alan Finnegan 9
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| 58. | Estimating the clinical prevalence of Wilson's disease in the UK |
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JHEP Rep. 2021 Jul 7;3(5):100329. doi: 10.1016/j.jhepr.2021.100329. eCollection 2021 Oct.
Pramudi Wijayasiri 1 2, Jatinder Hayre 2, Edward S Nicholson 3, Philip Kaye 4, Emilie A Wilkes 1, Jonathan Evans 5, Guruprasad P Aithal 1 2, Gabriela Jones 6, Fiona Pearce 1 7, Aloysious D Aravinthan 1 2
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| 63. | Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study |
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Lancet. 2021 Oct 30;398(10311):1581-1592.doi: 10.1016/S0140-6736(21)01256-3. Epub 2021 Oct 28.
Emmanuel Gonzales 1, Winita Hardikar 2, Michael Stormon 3, Alastair Baker 4, Loreto Hierro 5, Dorota Gliwicz 6, Florence Lacaille 7, Alain Lachaux 8, Ekkehard Sturm 9, Kenneth D R Setchell 10, Ciara Kennedy 11, Alejandro Dorenbaum 12, Jana Steinmetz 13, Nirav K Desai 14, Andrew J Wardle 15, Will Garner 15, Pamela Vig 15, Thomas Jaecklin 16, Etienne M Sokal 17, Emmanuel Jacquemin 18
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| 64. | Sleep disorders in Wilson's disease |
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Sleep Med. 2021 Jul;83:299-303. doi: 10.1016/j.sleep.2020.07.007. Epub 2020 Aug 30.
Valérie Cochen De Cock 1, Sandy Lacombe 2, France Woimant 3, Aurélia Poujois 4
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| 65. | Neuroradiological findings in Alagille syndrome |
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Br J Radiol. 2022 Jan 1;95(1129):20201241.doi: 10.1259/bjr.20201241. Epub 2021 Oct 5.
Alessandra D'Amico 1, Teresa Perillo 2, Renato Cuocolo 3, Lorenzo Ugga 2, Fabiola Di Dato 4, Ferdinando Caranci 5, Raffaele Iorio 4
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| 68. | Therapeutics Development for Alagille Syndrome |
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Front Pharmacol. 2021 Aug 23;12:704586. doi: 10.3389/fphar.2021.704586.eCollection 2021.
Phillip Sanchez 1, Atena Farkhondeh 1, Ivan Pavlinov 1, Karsten Baumgaertel 2, Steven Rodems 2, Wei Zheng 1
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| 70. | Reproductive function of long-term treated patients with hepatic onset of Wilson's disease: a prospective study |
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Reprod Biomed Online. 2021 Apr;42(4):835-841. doi: 10.1016/j.rbmo.2020.12.012.Epub 2020 Dec 27.
Giuseppe Gabriele Iorio 1, Alessandro Conforti 2, Roberta Vallone 2, Luigi Carbone 2, Margherita Matarazzo 3, Anna De Rosa 2, Pasquale De Rosa 2, Silvia Picarelli 2, Flora Fedele 3, Giuseppe Perruolo 3, Pietro Formisano 3, Raffaele Iorio 3, Carlo Alviggi 2, Fabiola Di Dato 3
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| 72. | Prevalence of Wilson disease based on genome databases in Japan |
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Pediatr Int. 2021 Aug;63(8):918-922. doi: 10.1111/ped.14565. Epub 2021 Jul 16.
Hiroshi Yamaguchi 1, Hiroaki Nagase 1, Shoichi Tokumoto 1, Kazumi Tomioka 1, Masahiro Nishiyama 1, Hiroki Takeda 1, Takeshi Ninchoji 1, China Nagano 1, Kazumoto Iijima 1, Kandai Nozu 1
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| 75. | ATP7B variant spectrum in a French pediatric Wilson disease cohort |
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Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.
Eduardo Couchonnal 1, Sophie Bouchard 2, Thomas Damgaard Sandahl 3, Cecile Pagan 4, Laurence Lion-François 5, Olivier Guillaud 5, Dalila Habes 6, Dominique Debray 7, Thierry Lamireau 8, Pierre Broué 9, Alexandre Fabre 10, Claire Vanlemmens 11, Rodolphe Sobesky 12, Frederic Gottrand 13, Laure Bridoux-Henno 14, Abdelouahed Belmalih 5, Aurelia Poujois 15, Anne Sophie Brunet 16, Alain Lachaux 17, Muriel Bost 18
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| 77. | ATP7B variant spectrum in a French pediatric Wilson disease cohort |
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Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.
Eduardo Couchonnal 1, Sophie Bouchard 2, Thomas Damgaard Sandahl 3, Cecile Pagan 4, Laurence Lion-François 5, Olivier Guillaud 5, Dalila Habes 6, Dominique Debray 7, Thierry Lamireau 8, Pierre Broué 9, Alexandre Fabre 10, Claire Vanlemmens 11, Rodolphe Sobesky 12, Frederic Gottrand 13, Laure Bridoux-Henno 14, Abdelouahed Belmalih 5, Aurelia Poujois 15, Anne Sophie Brunet 16, Alain Lachaux 17, Muriel Bost 18
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| 79. | Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD) |
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Ultrasound Obstet Gynecol. 2021 Aug 6. doi: 10.1002/uog.23756. Online ahead of print.
P Mohan 1, J Lemoine 1, C Trotter 1, I Rakova 1, P Billings 1, S Peacock 2, C-Y Kao 2, Y Wang 2 3, F Xia 2 3, C M Eng 2 3, P Benn 3
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| 81. | Wilson's disease: Revisiting an old friend |
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World J Hepatol. 2021 Jun 27;13(6):634-649. doi: 10.4254/wjh.v13.i6.634.
Ana Lucena-Valera 1, Domingo Perez-Palacios 1, Rocio Muñoz-Hernandez 2, Manuel Romero-Gómez 3, Javier Ampuero 4
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| 83. | Liver changes in Wilson's disease: the full spectrum. A report of 127 biopsies from 43 patients |
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Eur Rev Med Pharmacol Sci. 2021 Jun;25(12):4336-4344. doi: 10.26355/eurrev_202106_26142.
D Fanni 1, M Guido, C Gerosa, V Vallascas, M Moi, P Coni, E Vallebona, P Van Eyken, D Barcellona, A Scano, G Orrù, P Pampaloni, M Castagnola, G Faa
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| 84. | Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1 |
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Stem Cell Res. 2021 Jun 24;54:102447. doi: 10.1016/j.scr.2021.102447. Online ahead of print.
Brianna M Brooks 1, Manisha Pradhan 1, Yu-Shan Cheng 1, Kirill Gorshkov 1, Atena Farkhondeh 1, Catherine Z Chen 1, Jeanette Beers 2, Chengyu Liu 3, Karsten Baumgaertel 4, Steven Rodems 4, Wei Zheng 5
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| 85. | Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11 |
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Stem Cell Res. 2021 May;53:102366. doi: 10.1016/j.scr.2021.102366. Epub 2021 Apr 27.
Wei Zhu 1, Yu-Shan Cheng 1, Miao Xu 1, Atena Farkhondeh 1, Jeanette Beers 2, Jizhong Zou 2, Chengyu Liu 3, Karsten Baumgaertel 4, Steven Rodems 4, Wei Zheng 5
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| 87. | Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France |
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J Pediatr Gastroenterol Nutr. 2021 Jun 1. doi: 10.1097/MPG.0000000000003196.Online ahead of print.
Eduardo Couchonnal 1, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Jérôme Dumortier, Abdelouahed Belmalih, Aurelia Poujois, Emmanuel Jacquemin, Anne Sophie Brunet, Muriel Bost, Alain Lachaux
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| 95. | Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations |
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J Clin Med. 2021 Apr 28;10(9):1901. doi: 10.3390/jcm10091901.
Michael W Hess 1, Iris M Krainer 2, Przemyslaw A Filipek 2, Barbara Witting 1, Karin Gutleben 1, Ilja Vietor 3, Heinz Zoller 4, Denise Aldrian 5, Ekkehard Sturm 6, James R Goldenring 7, Andreas R Janecke 5, Thomas Müller 5, Lukas A Huber 3, Georg F Vogel 3 5
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| 97. | Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults |
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Stay Informed!
