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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
Expert Perspectives on the Unmet Needs in Patients with Wilson Disease
Regino Gonzalez-Peralta, MD & Sammy Saab, MD 		  Educational Webcast
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.Comparative evaluation of anterior segment optical coherence tomography and in vivo confocal microscopy for Kayser-Fleischer rings assessment in Wilson disease.
  Tian, Jiao (J);Yin, Xiuqin (X);Xiao, Yangyan (Y);
 
2.Quantitative vessel density around foveal avascular zone as a potential imaging biomarker for detecting central nervous system injury in Wilson's disease: an optical coherence tomography angiography study.
  Ning, Wei-Qin (WQ);Peng, Cui-Lin (CL);Zhuang, Yang-Sha (YS);Diao, Sheng-Peng (SP);Wu, Yun-Fan (YF);Huang, Ye-Qing (YQ);Liu, Ai-Qun (AQ);Yu, Qing-Yun (QY);Peng, Zhong-Xing (ZX);Hong, Ming-Fan (MF);Zhou, Zhi-Hua (ZH);
 
3.Wilson disease combined with polycystic ovary syndrome-clinical features, treatment, and outcome in Chinese patients.
  Chen, Lin (L);Fang, Ming-Juan (MJ);Zhang, Liang-Liang (LL);Liu, Yong-Feng (YF);Han, Yong-Zhu (YZ);Yu, Xu-En (XE);Xu, Yin (Y);
 
4.Asymptomatic Wilson's Disease Diagnosed during the Course of Ulcerative Colitis: A Case Report and Review.
  Kinjo, Megumi (M);Sagami, Shintaro (S);Nogami, Akira (A);Serizawa, Kanade (K);Shibui, Shunsuke (S);Umeda, Satoko (S);Asonuma, Kunio (K);Saito, Hidetsugu (H);Nakano, Masaru (M);Hibi, Toshifumi (T);Kobayashi, Taku (T);
 
5.Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review
 

Orphanet J Rare Dis.?2025 Feb 21;20(1):80.?doi: 10.1186/s13023-025-03599-2. 

Giovanni Vitale?1,?Marco Sciveres?2,?Claudia Mandato?3,?Adamo Pio d'Adamo?4?5,?Angelo Di Giorgio?6?7 
 
6.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 
 
7.Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome
 

Liver Int.?2025 Feb;45(2):e16201.?doi: 10.1111/liv.16201. 

Gideon Hirschfield?1,?Shannon M Vandriel?2?3,?Douglas B Mogul?3,?Marshall Baek?3,?Pamela Vig?3,?Binita M Kamath?2?4 
 
8.The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review
 

J Comp Eff Res.?2025 Jan 14:e240188.?doi: 10.57264/cer-2024-0188.Online ahead of print. 

Philip Bufler?1?2,?Robin Howard?3,?Lucia Quadrado?3,?Guy Lacey?3,?Jolan Terner-Rosenthal?3,?Andrea Goldstein?3,?Pamela Vig?3,?Deirdre Kelly?4?5 
 
9.A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
 

Orphanet J Rare Dis.?2025 Jan 21;20(1):33.?doi: 10.1186/s13023-025-03545-2. 

Isabelle Mohr?1,?Patrick Lamade?2,?Christophe Weber?3,?Viola Leidner?2,?Sebastian Köhrer?2,?Alexander Olkus?2,?Matthias Lang?2,?Andrea Langel?2,?Patrischia Dankert?2,?Melanie Greibich?2,?Silke Wolf?4,?Holger Zimmer?4,?Patrick Michl?2,?Aurélia Poujois?5,?Karl Heinz Weiss?6,?Uta Merle?2 
 
10.Recent advances in the management of pediatric cholestatic liver diseases
 

J Pediatr Gastroenterol Nutr.?2025 Jan 22.?doi: 10.1002/jpn3.12462.Online ahead of print. 

Krupa R Mysore?1,?Katherine Cheng?2,?Lakshmi Anandini Suri?3,?Rima Fawaz?4,?Alisha M Mavis?5,?Debora Kogan-Liberman?6,?Saeed Mohammad?7,?Sarah A Taylor?8 
 
11.Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study.
  Fang, Shona (S);Strader, Carey (C);Costantino, Halley (H);Weiss, Karl Heinz (KH);Hedera, Peter (P);
 
12.A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
  Mohr, Isabelle (I);Lamade, Patrick (P);Weber, Christophe (C);Leidner, Viola (V);Köhrer, Sebastian (S);Olkus, Alexander (A);Lang, Matthias (M);Langel, Andrea (A);Dankert, Patrischia (P);Greibich, Melanie (M);Wolf, Silke (S);Zimmer, Holger (H);Michl, Patrick (P);Poujois, Aurélia (A);Weiss, Karl Heinz (KH);Merle, Uta (U);
 
13.Recent advances in the management of pediatric cholestatic liver diseases
 

J Pediatr Gastroenterol Nutr. 2025 Jan 22. doi: 10.1002/jpn3.12462.Online ahead of print.

Krupa R Mysore 1, Katherine Cheng 2, Lakshmi Anandini Suri 3, Rima Fawaz 4, Alisha M Mavis 5, Debora Kogan-Liberman 6, Saeed Mohammad 7, Sarah A Taylor 8
 
14.Recent advances in the management of pediatric cholestatic liver diseases
 

J Pediatr Gastroenterol Nutr. 2025 Jan 22. doi: 10.1002/jpn3.12462.Online ahead of print.

Krupa R Mysore 1, Katherine Cheng 2, Lakshmi Anandini Suri 3, Rima Fawaz 4, Alisha M Mavis 5, Debora Kogan-Liberman 6, Saeed Mohammad 7, Sarah A Taylor 8
 
15.Hepatic progenitor cells reprogrammed from mouse fibroblasts repopulate hepatocytes in Wilson's disease mice.
  Liu, Kai (K);Li, Li (L);He, Yu (Y);Zhang, Song (S);You, Hong (H);Wang, Ping (P);
 
16.Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome
 

Liver Int. 2025 Feb;45(2):e16201. doi: 10.1111/liv.16201.

Gideon Hirschfield 1, Shannon M Vandriel 2 3, Douglas B Mogul 3, Marshall Baek 3, Pamela Vig 3, Binita M Kamath 2 4
 
17.Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome
 

Liver Int. 2025 Feb;45(2):e16201. doi: 10.1111/liv.16201.

Gideon Hirschfield 1, Shannon M Vandriel 2 3, Douglas B Mogul 3, Marshall Baek 3, Pamela Vig 3, Binita M Kamath 2 4
 
18.The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review
 

J Comp Eff Res. 2025 Jan 14:e240188. doi: 10.57264/cer-2024-0188.Online ahead of print.

Philip Bufler 1 2, Robin Howard 3, Lucia Quadrado 3, Guy Lacey 3, Jolan Terner-Rosenthal 3, Andrea Goldstein 3, Pamela Vig 3, Deirdre Kelly 4 5
 
19.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
 
20.Motor and Non-motor Neurologic Symptoms of Wilson's Disease: Exploring the Associations.
  Chakraborty, Arka Prava (AP);Mukherjee, Adreesh (A);Sinharoy, Uma (U);Chakrabarty, Madhushree (M);Sengupta, Mainak (M);Chowdhury, Jasodhara (J);Biswas, Atanu (A);
 
21.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
 
22.Dihydroxyacetone phosphate is a novel predictor of hepatic fibrosis in Latino adolescents with obesity.
  Schenker, Rachel B (RB);Ramirez, Cuauhtemoc B (CB);Jang, Cholsoon (C);Allayee, Hooman (H);Zhao, Xueheng (X);Setchell, Kenneth D R (KDR);Kohli, Rohit (R);Goran, Michael I (MI);
 
23.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
 
24.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
 
25.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
 
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