:: CLDF ::

Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts

Transl Gastroenterol Hepatol. 2021 Apr 5;6:22. doi: 10.21037/tgh-2020-03.eCollection 2021.

Melissa A Gilbert¹, Kathleen M Loomes^2 3

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults

Pediatr Gastroenterol Nutr. 2021 Feb 22. doi: 10.1097/MPG.0000000000003094.Online ahead of print.

Saul J Karpen¹, Binita M Kamath, John J Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J Sokol, Shelley Dunn, Richard J Thompson, James E Heubi

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

Gastroenterology. 2021 Mar 18;S0016-5085(21)00535-7. doi: 10.1053/j.gastro.2021.03.026.Online ahead of print.

Duc-Hung Pham¹, Ramesh Kudira¹, Lingfen Xu², C Alexander Valencia³, Jillian L Ellis¹, Tiffany Shi¹, Kimberley J Evason⁴, Immaculeta Osuji¹, Nelson Matuschek¹, Liva Pfuher¹, Mary Mullen¹, Sujit K Mohanty⁵, Ammar Husami⁶, Laura N Bull⁷, Kejian Zhang⁸, Sami Wali⁹, Chunyue Yin¹⁰, Alexander Miethke¹¹

Cholestasis-Associated Pruritus and Its Pruritogens

Front Med (Lausanne). 2021 Mar 9;8:639674. doi: 10.3389/fmed.2021.639674.eCollection 2021.

Jacqueline A G M Langedijk¹, Ulrich H Beuers¹, Ronald P J Oude Elferink¹

Surgical outcomes in Alagille syndrome and PFIC: A single institution's 20-year experience

J Pediatr Surg. 2018 May;53(5):976-979. doi: 10.1016/j.jpedsurg.2018.02.026. Epub 2018 Feb 9.

Celia D Flores¹, Yangyang R Yu¹, Tamir A Miloh², John Goss³, Mary L Brandt⁴

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing

J Pediatr. 2019 Aug;211:54-62.e4. doi: 10.1016/j.jpeds.2019.04.016. Epub 2019 May 31.

Emanuele Nicastro¹, Angelo Di Giorgio², Daniela Marchetti³, Chiara Barboni², Anna Cereda⁴, Maria Iascone³, Lorenzo D'Antiga²

Pediatric cholestatic liver disease: Successful transition of care

Cleve Clin J Med. 2019 Jul;86(7):454-464. doi: 10.3949/ccjm.86a.18140.

Praveen Kc Selvakumar¹, Vera Hupertz^1 2, Naveen Mittal³, Kris V Kowdley⁴, Naim Alkhouri⁵

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

Am J Med Genet A. 2021 Mar;185(3):719-731. doi: 10.1002/ajmg.a.62028. Epub 2020 Dec 24.

Emma A Schindler¹, Melissa A Gilbert², David A Piccoli³, Nancy B Spinner², Ian D Krantz¹, Kathleen M Loomes³

Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease

Hepatol Commun. 2020 Aug 5;4(11):1694-1707. doi: 10.1002/hep4.1574. eCollection 2020 Nov.

Benjamin L Shneider¹, Nathan P Goodrich², Wen Ye³, Cindy Sawyers⁴, Jean P Molleston⁴, Robert M Merion^2 3, Daniel H Leung¹, Saul J Karpen⁵, Binita M Kamath⁶, Laurel Cavallo¹, Kasper Wang⁷, Jeffrey H Teckman⁸, James E Squires⁹, Shikha S Sundaram¹⁰, Philip Rosenthal¹¹, Rene Romero⁵, Karen F Murray¹², Kathleen M Loomes¹³, M Kyle Jensen¹⁴, Jorge A Bezerra¹⁵, Lee M Bass¹⁶, Ronald J Sokol¹⁰, John C Magee³, Childhood Liver Disease Research Network (ChiLDReN)

10.

Pediatric biliary disorders: Multimodality imaging evaluation with clinicopathologic correlation

Clin Imaging. 2021 Jan 21;75:34-45. doi: 10.1016/j.clinimag.2021.01.006.Online ahead of print.

Hassan Aboughalia¹, Helen Hr Kim², Andre A S Dick³, M Cristina Pacheco⁴, Robert E Cilley⁵, Ramesh S Iyer⁶

11.

Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome

J Pediatr Gastroenterol Nutr. 2020 Nov;71(5):655-662. doi: 10.1097/MPG.0000000000002883.

Nathalie M Rock¹, Tanguy Demaret¹, Xavier Stéphenne¹, Isabelle Scheers¹, Francoise Smets¹, Valérie A McLin², Antonella Boschi³, Etienne M Sokal¹

12.

Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease

J Pediatr. 2021 Feb;229:86-94.e4.doi: 10.1016/j.jpeds.2020.09.053. Epub 2020 Sep 24.

Roger Luong¹, Jeffrey A Feinstein², Michael Ma³, Noelle H Ebel², Lisa Wise-Faberowski⁴, Yulin Zhang³, Lynn F Peng², Vamsi V Yarlagadda², Jennifer Shek³, Frank L Hanley³, Doff B McElhinney⁵

13.

Bone geometry and microarchitecture deficits in children with Alagille syndrome

Bone. 2020 Dec;141:115576. doi: 10.1016/j.bone.2020.115576. Epub 2020 Aug 11.

Joseph M Kindler¹, Ellen L Mitchell², David A Piccoli³, Adda Grimberg⁴, Mary B Leonard⁵, Kathleen M Loomes¹, Babette S Zemel⁶

14.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

Hepatology. 2021 Mar 5. doi: 10.1002/hep.31787. Online ahead of print.

Daan B E van Wessel¹, Richard J Thompson², Emmanuel Gonzales^3 4, Irena Jankowska^4 5, Benjamin L Shneider^6 7, Etienne Sokal^4 8, Tassos Grammatikopoulos², Agustina Kadaristiana², Emmanuel Jacquemin^3 9, Anne Spraul^9 10, Patryk Lipinski^4 5, Piotr Czubkowski^4 5, Nathalie Rock⁸, Mohammad Shagrani^11 12, Dieter Broering¹¹, Talal Algoufi¹¹, Nejat Mazhar¹¹, Emanuele Nicastro¹³, Deirdre Kelly^4 14, Gabriella Nebbia¹⁵, Henrik Arnell^4 16, Björn Fischler^4 16, Jan B F Hulscher^4 17, Daniele Serranti¹⁸, Cigdem Arikan¹⁹, Dominique Debray²⁰, Florence Lacaille²⁰, Cristina Goncalves^4 21, Loreto Hierro^4 22, Gema Muñoz Bartolo^4 22, Yael Mozer-Glassberg²³, Amer Azaz²⁴, Jernej Brecelj²⁵, Antal Dezsofi²⁶, Pier Luigi Calvo²⁷, Dorothee Krebs-Schmitt²⁸, Steffen Hartleif^4 29, Wendy L van der Woerd³⁰, Jian-She Wang³¹, Li-Ting Li³¹, Özlem Durmaz³², Nanda Kerkar³³, Marianne Hørby Jørgensen^4 34, Ryan Fischer³⁵, Carolina Jimenez-Rivera³⁶, Seema Alam³⁷, Mara Cananzi^4 38, Noémie Laverdure^4 39, Cristina Targa Ferreira⁴⁰, Felipe Ordonez⁴¹, Heng Wang⁴², Valerie Sency⁴², Kyung Mo Kim⁴³, Huey-Ling Chen⁴⁴, Elisa Carvalho⁴⁵, Alexandre Fabre⁴⁶, Jesus Quintero Bernabeu^4 47, Estella M Alonso^7 48, Ronald J Sokol^7 49, Frederick J Suchy^7 50, Kathleen M Loomes^7 51, Patrick J McKiernan^7 52, Philip Rosenthal^7 53, Yumirle Turmelle^7 54, Girish S Rao^7 55, Simon Horslen^7 56, Binita M Kamath^7 57, Maria Rogalidou⁵⁸, Wikrom W Karnsakul⁵⁹, Bettina Hansen^60 61, Henkjan J Verkade^1 4

15.

The Need for Consensus About Liver Transplantation For Patients With Neuropsychiatric Wilson's Disease

Prog Transplant. 2021 Mar 11;15269248211002806. doi: 10.1177/15269248211002806.Online ahead of print.

Alberto Ferrarese¹, Patrizia Burra¹

16.	Alagille Syndrome
	Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001.Epub 2018 Aug 22.Ellen Mitchell¹, Melissa Gilbert², Kathleen M Loomes³

17.

Cholestatic jaundice in infancy: struggling with many old and new phenotypes

Ital J Pediatr. 2019 Jul 17;45(1):83. doi: 10.1186/s13052-019-0679-x.

Claudia Mandato¹, Giada Zollo², Pietro Vajro³

18.

Alagille Syndrome: Diagnostic Challenges and Advances in Management

Diagnostics (Basel). 2020 Nov 6;10(11):907. doi: 10.3390/diagnostics10110907.

Mohammed D Ayoub^1 2, Binita M Kamath¹

19.

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.

Melissa A Gilbert¹, Robert C Bauer¹, Ramakrishnan Rajagopalan¹, Christopher M Grochowski¹, Grace Chao¹, Deborah McEldrew¹, James A Nassur¹, Elizabeth B Rand², Bryan L Krock¹, Binita M Kamath³, Ian D Krantz^4 5, David A Piccoli², Kathleen M Loomes², Nancy B Spinner¹

20.

Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other

Dig Liver Dis. 2020 Jan;52(1):1-8. doi: 10.1016/j.dld.2019.11.009. Epub 2019 Dec 13.

Livio Vitiello¹, Maddalena De Bernardo¹, Salvatore Guercio Nuzio², Claudia Mandato³, Nicola Rosa¹, Pietro Vajro⁴

21.

Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects

Int J Mol Sci. 2020 Dec 29;22(1):273. doi: 10.3390/ijms22010273.

Piter J Bosma¹, Marius Wits¹, Ronald Pj Oude-Elferink¹

22.

Molecular overview of progressive familial intrahepatic cholestasis

World J Gastroenterol. 2020 Dec 21;26(47):7470-7484.doi: 10.3748/wjg.v26.i47.7470.

Sriram Amirneni¹, Nils Haep¹, Mohammad A Gad¹, Alejandro Soto-Gutierrez¹, James E Squires², Rodrigo M Florentino³

23.

Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis

Liver Int. 2020 Aug;40(8):1812-1822. doi: 10.1111/liv.14553. Epub 2020 Jun 22.

Binita M Kamath^1 2, Philip Stein³, Roderick H J Houwen⁴, Henkjan J Verkade⁵

24.

Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis

Hepatol Commun. 2020 Aug 1;4(10):1516-1526. doi: 10.1002/hep4.1569. eCollection 2020 Oct.

Henry Shiau^1 2, Danielle Guffey³, Kathleen M Loomes^4 5, Christa Seidman⁵, Emily Ragozzino⁶, Jean P Molleston⁷, Deborah Schady⁸, Daniel H Leung^1 2

25.

Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome

J Pediatr Gastroenterol Nutr. 2018 Aug;67(2):148-156. doi: 10.1097/MPG.0000000000001958.

Binita M Kamath¹, Alastair Baker², Roderick Houwen³, Lora Todorova⁴, Nanda Kerkar⁵