| 1. | 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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| 3. | 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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| 4. | 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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| 5. | 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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| 7. | 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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| 15. | 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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| 17. | Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults |
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Pediatr Gastroenterol Nutr. 2021 Feb 22. doi: 10.1097/MPG.0000000000003094.Online ahead of print.
Saul J Karpen 1, Binita M Kamath, John J Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J Sokol, Shelley Dunn, Richard J Thompson, James E Heubi
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| 18. | Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis |
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Gastroenterology. 2021 Mar 18;S0016-5085(21)00535-7. doi: 10.1053/j.gastro.2021.03.026.Online ahead of print.
Duc-Hung Pham 1, Ramesh Kudira 1, Lingfen Xu 2, C Alexander Valencia 3, Jillian L Ellis 1, Tiffany Shi 1, Kimberley J Evason 4, Immaculeta Osuji 1, Nelson Matuschek 1, Liva Pfuher 1, Mary Mullen 1, Sujit K Mohanty 5, Ammar Husami 6, Laura N Bull 7, Kejian Zhang 8, Sami Wali 9, Chunyue Yin 10, Alexander Miethke 11
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| 24. | Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease |
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Hepatol Commun. 2020 Aug 5;4(11):1694-1707. doi: 10.1002/hep4.1574. eCollection 2020 Nov.
Benjamin L Shneider 1, Nathan P Goodrich 2, Wen Ye 3, Cindy Sawyers 4, Jean P Molleston 4, Robert M Merion 2 3, Daniel H Leung 1, Saul J Karpen 5, Binita M Kamath 6, Laurel Cavallo 1, Kasper Wang 7, Jeffrey H Teckman 8, James E Squires 9, Shikha S Sundaram 10, Philip Rosenthal 11, Rene Romero 5, Karen F Murray 12, Kathleen M Loomes 13, M Kyle Jensen 14, Jorge A Bezerra 15, Lee M Bass 16, Ronald J Sokol 10, John C Magee 3, Childhood Liver Disease Research Network (ChiLDReN)
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