:: CLDF ::

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 Miloh¹, Andrea Goldstein², Robin Howard², Douglas B Mogul², Jessica R Marden³, Annika Anderson³, Katherine Gaburo³, Noam Kirson³, Philip Rosenthal⁴

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-Valera¹, Pilar Ruz-Zafra¹, Javier Ampuero²

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 Schilsky¹, Anna Czlonkowska², Massimo Zuin³, David Cassiman⁴, Carlos Twardowschy⁵, Aurelia Poujois⁶, Francisco de Assis A Gondim⁷, Gerald Denk⁸, Rubens G Cury⁹, Peter Ott¹⁰, Joanna Moore¹¹, Aftab Ala¹², Renata D'Inca¹³, Eduardo Couchonnal-Bedoya¹⁴, Koenraad D'Hollander¹⁵, Nicolas Dubois¹⁵, C Omar F Kamlin¹⁶, Karl Heinz Weiss¹⁷; CHELATE trial investigators

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 Kavallar¹, Franka Messner², Stefan Scheidl², Rupert Oberhuber², Stefan Schneeberger², Denise Aldrian¹, Valeria Berchtold², Murat Sanal², Andreas Entenmann¹, Simon Straub¹, Anna Gasser¹, Andreas R Janecke¹³, Thomas Müller¹, Georg F Vogel¹⁴

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 Mainwaring¹, L Mac Felmly¹, R Thomas Collins², Frank L Hanley¹

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 Said¹, Gamal Marey²

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 Nilles¹², Mickael Alexandre Obadia¹², Rodolphe Sobesky³, Jérôme Dumortier⁴⁵, Olivier Guillaud⁴⁶, Chloé Laurencin⁴⁷, Caroline Moreau⁸, Claire Vanlemmens⁹, Fabienne Ory-Magne¹⁰, Victor de Ledinghen¹¹, Edouard Bardou-Jacquet¹², Frederique Fluchère¹³, Corinne Collet²¹⁴, Nouzha Oussedik-Djebrani²¹⁵, France Woimant², Aurélia Poujois¹²

Pseudocholinesterase as a Biomarker for Untreated Wilson's Disease

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

Harald Hefter¹, Max Arslan¹², Theodor S Kruschel¹, Max Novak¹, Dietmar Rosenthal¹, Sven G Meuth¹, Philipp Albrecht¹, Christian J Hartmann¹, Sara Samadzadeh¹³

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 Jr¹

10.

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 Hankeova¹², Noemi Van Hul¹, Jakub Laznovsky³, Elisabeth Verboven¹, Katrin Mangold¹, Naomi Hensens¹⁴, Csaba Adori⁵, Elvira Verhoef¹⁴, Tomas Zikmund³, Feven Dawit⁶, Michaela Kavkova³, Jakub Salplachta³, Marika Sjöqvist¹, Bengt R Johansson⁷, Mohamed G Hassan⁸⁹, Linda Fredriksson¹⁰, Karsten Baumgärtel¹¹, Vitezslav Bryja², Urban Lendahl¹, Andrew Jheon⁸, Florian Alten¹², Kristina Teär Fahnehjelm¹³¹⁴, Björn Fischler⁶, Jozef Kaiser³, Emma R Andersson¹

11.

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 Wehrman¹, Christine K Lee

12.

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 Bedoyan¹, Olya T Lovell², Simon P Horslen³, James E Squires

13.

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 Does¹, Cynthia Levy², Gil Yosipovitch³

14.

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 Ebel¹, Andrea Goldstein², Robin Howard², Douglas B Mogul², Jessica R Marden³, Annika Anderson³, Katherine Gaburo³, Noam Kirson³, Philip Rosenthal⁴

15.

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 Murillo¹, Maria Collantes²³, Cristina Gazquez¹, Daniel Moreno¹, Ruben Hernandez-Alcoceba¹, Miren Barberia¹, Margarita Ecay³, Blanche Tamarit⁴, Anne Douar⁴, Veronica Ferrer⁴, Jean Philippe Combal⁴, Ivan Peñuelas²³, Bernard Bénichou⁴, Gloria Gonzalez-Aseguinolaza¹⁵

16.

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 Weiss¹, Carlot Kruse², Nina Manolaki³, Massimo Zuin⁴, Peter Ferenci⁵, Daphne van Scheppingen², Larissa Wijnberg², Constance E de Koning⁶, Anil Dhawan⁷

17.

Maralixibat Treatment Response in Alagille Syndrome Is Associated with Improved Health-Related Quality of Life

J Pediatr. 2022 Sep 9;S0022-3476(22)00791-0. doi: 10.1016/j.jpeds.2022.09.001.Online ahead of print.

Binita M Kamath¹, Andrea Goldstein², Robin Howard², Will Garner², Pamela Vig², Jessica R Marden³, Emma Billmyer³, Annika Anderson³, Noam Kirson³, Emmanuel Jacquemin⁴, Emmanuel Gonzales⁴

18.

Validation of the PRUCISION Instruments in Pediatric Patients with Progressive Familial Intrahepatic Cholestasis

Adv Ther. 2022 Sep 6. doi: 10.1007/s12325-022-02262-7. Online ahead of print.

Chad Gwaltney¹, Cristina Ivanescu², Lisa Karlsson³, Natalie Warholic³, Lise Kjems³, Patrick Horn³

19.

Wilson Disease in Children

Clin Liver Dis. 2022 Aug;26(3):473-488. doi: 10.1016/j.cld.2022.03.008.Epub 2022 Jun 25.

Nanda Kerkar¹, Ajay Rana²

20.

Neuroimaging Correlates of Cognitive Deficits in Wilson's Disease

Mov Disord 2022 Aug;37(8):1728-1738. doi: 10.1002/mds.29123. Epub 2022 Jun 20.

Samuel Shribman¹, Maggie Burrows¹, Rhian Convery², Martina Bocchetta², Carole H Sudre³⁴⁵, Julio Acosta-Cabronero⁶, David L Thomas²⁷⁸, Godfrey T Gillett⁹, Emmanuel A Tsochatzis¹⁰, Oliver Bandmann¹¹, Jonathan D Rohrer², Thomas T Warner¹

21.

The Maternal and Fetal Outcomes of Pregnancy in Wilson's Disease: A Systematic Literature Review and Meta-Analysis

Biomedicines. 2022 Aug 24;10(9):2072. doi: 10.3390/biomedicines10092072.

Tomasz Litwin¹, Jan Bembenek², Agnieszka Antos¹, Iwona Kurkowska-Jastrzebska¹, Adam Przybylkowski³, Marta Skowronska¹, Lukasz Smolinski¹, Anna Czlonkowska¹

22.

Overview of Progressive Familial Intrahepatic Cholestasis

Clin Liver Dis. 2022 Aug;26(3):371-390. doi: 10.1016/j.cld.2022.03.003.

Sara Hassan¹, Paula Hertel²

23.

Development of the Patient- and Observer-Reported PRUCISION Instruments to Assess Pruritus and Sleep Disturbance in Pediatric Patients with Cholestatic Liver Diseases

Adv Ther. 2022 Sep 6. doi: 10.1007/s12325-022-02261-8. Online ahead of print.

Chad Gwaltney¹, Stephanie Bean², Meredith Venerus³, Lisa Karlsson⁴, Natalie Warholic⁴, Lise Kjems⁴, Patrick Horn⁴

24.

Natural History of Liver Disease in a Large International Cohort of Children with Alagille syndrome: Results from The GALA Study

Hepatology. 2022 Aug 29. doi: 10.1002/hep.32761. Online ahead of print.

Shannon M Vandriel¹, Li-Ting Li², Huiyu She², Jian-She Wang², Melissa A Gilbert³, Irena Jankowska⁴, Piotr Czubkowski⁴, Dorota Gliwicz-Miedzinska⁴, Emmanuel M Gonzales⁵, Emmanuel Jacquemin⁵, Jérôme Bouligand⁶, Nancy B Spinner³, Kathleen M Loomes, David A Piccoli, Lorenzo D'Antiga⁷, Emanuele Nicastro⁷, Étienne Sokal⁸, Tanguy Demaret⁸, Noelle H Ebel⁹, Jeffrey A Feinstein¹⁰, Rima Fawaz¹¹, Silvia Nastasio¹², Florence Lacaille¹³, Dominique Debray¹⁴, Henrik Arnell¹⁵, Björn Fischler¹⁶, Susan Siew¹⁷, Michael Stormon¹⁷, Saul J Karpen¹⁸, Rene Romero¹⁸, Kyung Mo Kim¹⁹, Woo Yim Baek¹⁹, Winita Hardikar²⁰, Sahana Shankar²¹, Amin J Roberts²², Helen M Evans²², M Kyle Jensen²³, Marianne Kavan²³, Shikha S Sundaram²⁴, Alexander Chaidez²⁴, Palaniswamy Karthikeyan²⁵, Maria Camila Sanchez²⁶, Maria Lorena Cavalieri²⁶, Henkjan J Verkade²⁷, Way Seah Lee²⁸, James E Squires²⁹, Christina Hajinicolaou³⁰, Chatmanee Lertudomphonwanit³¹, Ryan T Fischer³², Catherine Larson-Nath³³, Yael Mozer-Glassberg³⁴, Cigdem Arikan³⁵, Henry C Lin³⁶, Jesus Quintero Bernabeu³⁷, Seema Alam³⁸, Deirdre Kelly³⁹, Elisa Carvalho⁴⁰, Cristina Targa Ferreira⁴¹, Giuseppe Indolfi⁴², Ruben E Quiros-Tejeira⁴³, Pinar Bulut⁴⁴, Pier Luigi Calvo⁴⁵, Zerrin Önal⁴⁶, Pamela L Valentino¹¹, Dev M Desai⁴⁷, John Eshun⁴⁸, Maria Rogalidou⁴⁹, Antal Dezsofi⁵⁰, Sabina Wiecek⁵¹, Gabriella Nebbia⁵², Raquel Borges Pinto⁵³, Victorien M Wolters⁵⁴, María Legarda Tamara⁵⁵, Andréanne N Zizzo⁵⁶, Jennifer Garcia^57<

25.

Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management

Clin Liver Dis. 2022 Aug;26(3):355-370. doi: 10.1016/j.cld.2022.03.002.Epub 2022 Jun 25.

Mohammed D Ayoub¹, Binita M Kamath²

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