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Pediatric Liver Disease Content  
Slide Library
   Released: 2022
Cholestatic Pruritus Across the Age Spectrum: What Are You Missing?
94 slides
 
 
   Released: 2021
test
New Innovations for Children with Rare Cholestatic Liver Disease: Expert Perspectives on Diagnostic and Treatment Advances in PFIC and ALGS
61 slides
 
 
 
Webcast Library
     
Cholestatic Pruritus Across the Age Spectrum: What Are You Missing?   Educational Webcast
 
Clinical Advances in Wilson Disease: New Updates on Diagnosis, Management and Treatment.   Educational Webcast
 
Abstract Library
1.Premature senescence of the liver in Alagille patients
 

PLoS One. 2023 Apr 26;18(4):e0285019. doi: 10.1371/journal.pone.0285019. eCollection 2023.

Giulia Jannone 1, Catherine de Magnée 2, Roberto Tambucci 2, Jonathan Evraerts 1, Joachim Ravau 1, Mustapha Najimi 1, Etienne Marc Sokal 1
 
2.Wilson's disease: best practice
 

J Clin Pathol. 2023 Apr 12;jcp-2022-208551. doi: 10.1136/jcp-2022-208551.Online ahead of print.

Aidan Ryan 1 2, Patrick J Twomey 3 4, Paul Cook 5
 
3.Wilson's disease: best practice
 

J Clin Pathol. 2023 Apr 12;jcp-2022-208551. doi: 10.1136/jcp-2022-208551.Online ahead of print.

Aidan Ryan 1 2, Patrick J Twomey 3 4, Paul Cook 5
 
4.Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review
 

Medicina (Kaunas). 2023 Apr 18;59(4):786. doi: 10.3390/medicina59040786.

Irene Maria Ungureanu 1, Mara Ioana Iesanu 1 2, Catalin Boboc 1, Vlad Cosoreanu 3, Lorena Vatra 3, Anna Kadar 3 4, Evelina Nicoleta Ignat 5, Felicia Galos 1 6
 
5.Odevixibat Treatment of Alagille Syndrome: A Case Report
 

JPGN Rep. 2023 Mar 24;4(2):e301. doi: 10.1097/PG9.0000000000000301.eCollection 2023 May.

Rainer Ganschow 1, Christof Maucksch 2
 
6.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
 

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
 
7.The Gut-Liver Axis in Pediatric Liver Health and Disease
 

Microorganisms. 2023 Feb 27;11(3):597. doi: 10.3390/microorganisms11030597.

Stephanie L Rager 1 2, Melody Y Zeng 1 2 3
 
8.Major Depressive Disorder in an International Multisite Wilson Disease Registry
 

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
 
9.Olfactory dysfunction in patients with Wilson's Disease
 

Neurol Neurochir Pol. 2023 Mar 20. doi: 10.5603/PJNNS.a2023.0020. Online ahead of print.

Agnieszka Piechal 1 2, Jan Bembenek 3, Anna Baranowska 1, Tomasz Litwin 1, Dagmara Mirowska-Guzel 2, Anna Czlonkowska 1
 
10.Costs of pediatric liver transplantation among commercially insured and Medicaid-insured patients with cholestasis in the US
 

Liver Transpl. 2023 Feb 8. doi: 10.1097/LVT.0000000000000082. Online ahead of print.

Tamir Miloh 1, Andrea Goldstein 2, Robin Howard 2, Douglas B Mogul 2, Jessica R Marden 3, Annika Anderson 3, Katherine Gaburo 3, Noam Kirson 3, Philip Rosenthal 4
 
11.Wilson's disease: overview
 

Med Clin (Barc). 2023 Jan 23;S0025-7753(22)00679-0.doi: 10.1016/j.medcli.2022.12.016. Online ahead of print.

Ana Lucena-Valera 1, Pilar Ruz-Zafra 1, Javier Ampuero 2
 
12.Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
 

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
 
13.Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation
 

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
 
14.Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery
 

Eur J Cardiothorac Surg. 2022 Dec 2;63(1):ezac553. doi: 10.1093/ejcts/ezac553.

Richard D Mainwaring 1, L Mac Felmly 1, R Thomas Collins 2, Frank L Hanley 1
 
15.Bilateral branch pulmonary arterial reconstruction in the Alagille syndrome: The technique and its pitfalls
 

Multimed Man Cardiothorac Surg. 2022 Dec 2;2022. doi: 10.1510/mmcts.2022.088.

Sameh M Said 1, Gamal Marey 2
 
16.Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study
 

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
 
17.Pseudocholinesterase as a Biomarker for Untreated Wilson's Disease
 

Biomolecules. 2022 Nov 30;12(12):1791. doi: 10.3390/biom12121791.

Harald Hefter 1, Max Arslan 1 2, Theodor S Kruschel 1, Max Novak 1, Dietmar Rosenthal 1, Sven G Meuth 1, Philipp Albrecht 1, Christian J Hartmann 1, Sara Samadzadeh 1 3
 
18.An Update on the Future of Wilson Disease Management
 

Prim Care Companion CNS Disord. 2022 Nov 29;24(6):AN21065COM1C.doi: 10.4088/PCC.AN21065COM1C.

Robert S Brown Jr 1
 
19.Sex differences and risk factors for bleeding in Alagille syndrome
 

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
 
20.The cholestatic infant: updates on diagnosis and genetics
 

Curr Opin Pediatr. 2022 Oct 1;34(5):491-495.doi: 10.1097/MOP.0000000000001156. Epub 2022 Aug 3.

Andrew Wehrman 1, Christine K Lee
 
21. Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis
 

Expert Opin Pharmacother 2022 Oct 24. doi: 10.1080/14656566.2022.2140040.Online ahead of print.

Sarah M Bedoyan 1, Olya T Lovell 2, Simon P Horslen 3, James E Squires 
 
22. Cholestatic Itch: Our Current Understanding of Pathophysiology and Treatments
 

Am J Clin Dermatol. 2022 Sep;23(5):647-659. doi: 10.1007/s40257-022-00710-2.Epub 2022 Jul 28.

Ashley Vander Does 1, Cynthia Levy 2, Gil Yosipovitch 3
 
23.Healthcare Resource Utilization by Patients with Alagille Syndrome
 

J Pediatr. 2022 Sep 27;S0022-3476(22)00855-1. doi: 10.1016/j.jpeds.2022.09.033.Online ahead of print.

Noelle H Ebel 1, Andrea Goldstein 2, Robin Howard 2, Douglas B Mogul 2, Jessica R Marden 3, Annika Anderson 3, Katherine Gaburo 3, Noam Kirson 3, Philip Rosenthal 4
 
24.High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson's disease
 

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
 
25.Multicentre, retrospective study to assess long-term outcomes of chelator based treatment with trientine in Wilson disease patients withdrawn from therapy with d -penicillamine
 

Eur J Gastroenterol Hepatol. 2022 Sep 1;34(9):940-947.doi: 10.1097/MEG.0000000000002387. Epub 2022 Apr 29.

Karl Heinz Weiss 1, Carlot Kruse 2, Nina Manolaki 3, Massimo Zuin 4, Peter Ferenci 5, Daphne van Scheppingen 2, Larissa Wijnberg 2, Constance E de Koning 6, Anil Dhawan 7
 
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