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Pediatric Liver Disease Content  
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Slide Library
   Released: 2022
Cholestatic Pruritus Across the Age Spectrum: What Are You Missing?
94 slides
 
 
   Released: 2021
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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.Exchangeable serum copper: Adult and pediatric reference intervals and in vitro stability in a nordic cohort
 

Clin Chim Acta. 2025 Jan 15:565:119978. doi: 10.1016/j.cca.2024.119978. Epub 2024 Sep 26.

Silje Hovden Christensen 1, Frederik Teicher Kirk 2, Tua Gyldenholm 3, Emilie Munk 2, Britta Eilersen Hjerrild 4, Helene Kvistgaard 4, Lene Damm Christensen 1, Thomas Damgaard Sandahl 5, Anders Abildgaard 6
 
2.Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review
 

Case Reports Hepatol. 2024 Nov 25:2024:3815089.doi: 10.1155/crhe/3815089. eCollection 2024.

Alessandro La Rosa 1, Angela Elvira Covone 2, Domenico Coviello 2, Serena Arrigo 1, Jacopo Ferro 3, Paolo Gandullia 1, Annalisa Madeo 1
 
3.Kidney and vascular involvement in Alagille syndrome
 

Pediatr Nephrol. 2024 Oct 24. doi: 10.1007/s00467-024-06562-8.Online ahead of print.

Bruno Ranchin 1, Marie-Noelle Meaux 2 3, Malo Freppel 2 3, Mathias Ruiz 4, Aurelie De Mul 2 3 5
 
4.Seven decades of clinical experience with Wilson's disease: Report from the national reference centre in Poland
 

Eur J Neurol. 2024 Nov;31(11):e15646. doi: 10.1111/ene.15646. Epub 2022 Dec 11.

Anna Czlonkowska 1, Maciej Niewada 2, Tomasz Litwin 1, Lukasz Krainski 3, Marta Skowronska 1, Agnieszka Piechal 1 2, Agnieszka Antos 1, Monika Misztal 1, Ishani Khanna 2, Iwona Kurkowska-Jastrzebska 1
 
5.Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial
 

Eur J Neurol. 2024 Oct 29:e16524. doi: 10.1111/ene.16524. Online ahead of print.

Chloé Laurencin 1 2 3, Aurelia Poujois 4, Maxime Bonjour 5 6 7, Caroline Demily 8, Hélène Klinger 1, Emmanuel Roze 9 10, Victoire Leclert 1, Teodor Danaila 1, Carole Langlois-Jacques 5 6 7, Eduardo Couchonnal 3, France Woimant 4, Mickael Alexandre Obadia 4, Gwennaelle Perez 4, Michaela Pernon 4, Laurianne Blanchet 1, Emmanuel Broussolle 1, Marie Vidailhet 9 10, Behrouz Kassai 11, Elena Moro 12, Carine Karachi 13, Gustavo Polo 14, David Grabli 9 10, Aurélie Portefaix 11, Stéphane Thobois 1 2
 
6.Kidney and vascular involvement in Alagille syndrome
 

Pediatr Nephrol. 2024 Oct 24. doi: 10.1007/s00467-024-06562-8.Online ahead of print.

Bruno Ranchin 1, Marie-Noelle Meaux 2 3, Malo Freppel 2 3, Mathias Ruiz 4, Aurelie De Mul 2 3 5

Affiliations collapse
 
7.Seven decades of clinical experience with Wilson's disease: Report from the national reference centre in Poland
 

Eur J Neurol. 2024 Nov;31(11):e15646. doi: 10.1111/ene.15646. Epub 2022 Dec 11.

Anna Czlonkowska 1, Maciej Niewada 2, Tomasz Litwin 1, Lukasz Krainski 3, Marta Skowronska 1, Agnieszka Piechal 1 2, Agnieszka Antos 1, Monika Misztal 1, Ishani Khanna 2, Iwona Kurkowska-Jastrzebska 1
 
8.Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome
 

Ophthalmic Genet. 2024 Oct;45(5):522-531.doi: 10.1080/13816810.2024.2362214. Epub 2024 Jul 2.

Christine Law 1 2, Niveditha Pattathil 1, Hailey Simpson 2, Michael J Ward 3, Shaun Lampen 1, Binita Kamath 4, Tomas S Aleman 5
 
9.Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries
 

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
 
10.Epidemiology of Wilson disease in Germany - real-world insights from a claims data study
 

Orphanet J Rare Dis. 2024 Sep 11;19(1):335. doi: 10.1186/s13023-024-03351-2.

Shona Fang 1, Peter Hedera 2, Julia Borchert 3, Michael Schultze 4, Karl Heinz Weiss 5
 
11.Heritable Chronic Cholestatic Liver Diseases: A Review
 

J Clin Transl Hepatol. 2024 Aug 28;12(8):726-738. doi: 10.14218/JCTH.2024.00119.Epub 2024 Jun 17.

Jasmine Tidwell 1, George Y Wu 1 2
 
12.Deadly excess copper
 

Redox Biol. 2024 Sep:75:103256. doi: 10.1016/j.redox.2024.103256.Epub 2024 Jun 28.

Judith Sailer 1, Judith Nagel 1, Banu Akdogan 2, Adrian T Jauch 1, Jonas Engler 1, Percy A Knolle 3, Hans Zischka 4
 
13.Exploring odevixibat's efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences
 

Expert Opin Pharmacother. 2024 Aug 21:1-9.doi: 10.1080/14656566.2024.2392873. Online ahead of print.

Chaowapong Jarasvaraparn 1, Minna Rodrigo 2, Christopher Hartley 3, Wikrom Karnsakul 2
 
14.Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools
 

HGG Adv. 2024 Sep 6:100351. doi: 10.1016/j.xhgg.2024.100351. Online ahead of print.

Ernest Keefer-Jacques 1, Nicolette Valente 1, Anastasia M Jacko 1, Grace Matwijec 1, Apsara Reese 1, Aarna Tekriwal 1, Kathleen M Loomes 2, Nancy B Spinner 3, Melissa A Gilbert 4
 
15.Copper impairs the intestinal barrier integrity in Wilson disease
 

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
 
16.Exploring odevixibat's efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences
 

Expert Opin Pharmacother. 2024 Aug 21:1-9.doi: 10.1080/14656566.2024.2392873. Online ahead of print.

Chaowapong Jarasvaraparn 1, Minna Rodrigo 2, Christopher Hartley 3, Wikrom Karnsakul 2
 
17.Deadly excess copper
 

Redox Biol. 2024 Sep:75:103256. doi: 10.1016/j.redox.2024.103256.Epub 2024 Jun 28.

Judith Sailer 1, Judith Nagel 1, Banu Akdogan 2, Adrian T Jauch 1, Jonas Engler 1, Percy A Knolle 3, Hans Zischka 4
 
18.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
 

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
 
19.Metabolic characteristics of patients with MetALD: Caveats of a new definition
 

Liver Int. 2024 Aug 17. doi: 10.1111/liv.16034. Online ahead of print.

Erin Petrie 1, Meagan Gray 1, Fernando Bril 2 3
 
20.Epidemiology of Metabolic Dysfunction Associated Steatotic Liver Disease
 

Clin Mol Hepatol. 2024 Aug 19. doi: 10.3350/cmh.2024.0431. Online ahead of print.

Zobair M Younossi 1 2 3, Markos Kalligeros 4, Linda Henry 1 2 3
 
21.Nonalcoholic Fatty Liver Disease and Cardiovascular Disease: Causation or Association
 

Cardiol Rev. 2024 Sep-Oct;32(5):453-462. doi: 10.1097/CRD.0000000000000537.Epub 2023 Feb 24.

Atul D Bali 1, Akiva Rosenzveig 2, William H Frishman 1, Wilbert S Aronow 1
 
22.Liver tissue lipids in metabolic dysfunction-associated steatotic liver disease with diabetes and obesity
 

Clin Res Hepatol Gastroenterol. 2024Aug;48(7):102402. doi:10.1016/j.clinre.2024.102402.Epub 2024 Jun 21.

Achuthan Sourianarayanane 1, Christopher R Brydges 2, Arthur J McCullough 3
 
23.NAFLD and MAFLD independently increase the risk of major adverse cardiovascular events (MACE): a 20-year longitudinal follow-up study from regional Australia
 

Hepatol Int. 2024 Jul 15. doi: 10.1007/s12072-024-10706-1. Online ahead of print.

Karl Vaz 1 2, William Kemp 3 4, Ammar Majeed 3 4, John Lubel 3 4, Dianna J Magliano 5, Kristen M Glenister 6, Lisa Bourke 6, David Simmons # 6 7, Stuart K Roberts # 3 4
 
24.Exploring factors associated with non-alcoholic fatty liver disease using longitudinal MRI
 

BMC Gastroenterol. 2024 Jul 23;24(1):229. doi: 10.1186/s12876-024-03300-0.

Friedrich Horn # 1, Till Ittermann # 2, Marie-Luise Kromrey 1 3, Danilo Seppelt 3, Henry Völzke 2, Jens-Peter Kühn # 4, Felix Schön # 3
 
25.Performance of novel collagen turnover biomarkers to detect increased liver stiffness in MASLD
 

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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