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For: Henkel SA, Squires JH, Ayers M, Ganoza A, Mckiernan P, Squires JE. Expanding etiology of progressive familial intrahepatic cholestasis. World J Hepatol 2019; 11(5): 450-463 [PMID: 31183005 DOI: 10.4254/wjh.v11.i5.450]
URL: https://www.wjgnet.com/1007-9327/full/v11/i5/450.htm
Number Citing Articles
1
Wen Zhang, Ruizhu Lin, Zhikun Lu, Huiying Sheng, Yi Xu, Xiuzhen Li, Jing Cheng, Yanna Cai, Xiaojian Mao, Li Liu. Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. Pediatric Gastroenterology, Hepatology & Nutrition 2020; 23(6) doi: 10.5223/pghn.2020.23.6.558
2
Hana Halabi, Khawla Kalantan, Warif Abdulhaq, Habeib Alshaibi, Mohammed A Almatrafi. A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review. Cureus 2023;  doi: 10.7759/cureus.47276
3
4
Jian-Li Zhou, Yu-Zhen Zhao, Shan-Shan Wang, Mo-Xian Chen, Shaoming Zhou, Chen Chen. RNA Splicing: A Versatile Regulatory Mechanism in Pediatric Liver Diseases. Frontiers in Molecular Biosciences 2021; 8 doi: 10.3389/fmolb.2021.725308
5
Camilla Stephens, M Isabel Lucena, Raúl J Andrade. Genetic risk factors in the development of idiosyncratic drug-induced liver injury. Expert Opinion on Drug Metabolism & Toxicology 2021; 17(2) doi: 10.1080/17425255.2021.1854726
6
Maria Amendola, Lara Berklite, Simon Horslen, James E. Squires. Genetic and Familial Forms of Pediatric Intrahepatic Cholestasis. Clinics in Liver Disease 2026;  doi: 10.1016/j.cld.2026.07.002
7
Jacques-Aurélien Sergent, Christian Hulen, Nour-Eddine Lomri. Impact of ATP8B1 Mutation and Maturation on CFTR Functionality and Gene Expression. Livers 2026; 6(5) doi: 10.3390/livers6050095
8
Roman A. Gudkov, Andrey V. Dmitriyev, Natal'ya V. Fedina, Valeriya I. Petrova, Tat'yana A. Teryokhina, Alina E. Sologub. Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review). I.P. Pavlov Russian Medical Biological Herald 2024; 32(2) doi: 10.17816/PAVLOVJ188846
9
Zhanghao Li, Feixia Wang, Baoyu Liang, Ying Su, Sumin Sun, Siwei Xia, Jiangjuan Shao, Zili Zhang, Min Hong, Feng Zhang, Shizhong Zheng. Methionine metabolism in chronic liver diseases: an update on molecular mechanism and therapeutic implication. Signal Transduction and Targeted Therapy 2020; 5(1) doi: 10.1038/s41392-020-00349-7
10
I. M. Iljinsky, N. P. Mozheiko, O. M. Tsirulnikova. Morphology of transplanted liver in recurrent progressive familial intrahepatic cholestasis type 2. Russian Journal of Transplantology and Artificial Organs 2021; 22(4) doi: 10.15825/1995-1191-2020-4-192-196
11
T. M. Ananda Kesavan, K. C. Sreejith Kumar, Geethu Ponnu Thampi. A rare case of prolonged jaundice due to USP53 gene mutation. Pediatric Companion 2022; 1(1) doi: 10.4103/pedc.pedc_8_22
12
Huma Arshad Cheema, Aliaksandr Skrahin, Anjum Saeed, Zafar Fayyaz, Muhammad Arshad Alvi, Muhammad Nadeem Anjum, Nadia Waheed, Khalil Ur Rehman, Ahmad Malik, Volha Skrahina, Arndt Rolfs. Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children. GenoMed Connect 2025; 1(1) doi: 10.69709/GenomC.2025.165225
13
Hui Xiong, Ai-Hua Zhang, Ya-Jing Guo, Xiao-Hang Zhou, Hui Sun, Le Yang, Heng Fang, Guang-Li Yan, Xi-Jun Wang. A Clinical and Animal Experiment Integrated Platform for Small-Molecule Screening Reveals Potential Targets of Bioactive Compounds from a Herbal Prescription Based on the Therapeutic Efficacy of Yinchenhao Tang for Jaundice Syndrome. Engineering 2021; 7(9) doi: 10.1016/j.eng.2020.12.016
14
João Miguel Pimentel, Susana Nobre, Rui Caetano Oliveira, Ricardo Martins, Maria Augusta Cipriano. Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report. Clinical Transplantation and Research 2024; 38(3) doi: 10.4285/ctr.24.0016
15
Jay H. Lefkowitch. Scheuer's Liver Biopsy Interpretation. 2021;  doi: 10.1016/B978-0-7020-7584-1.00013-9
16
Eleni V. Geladari, Natalia G. Vallianou, Evangelia Margellou, Dimitris Kounatidis, Vassilios Sevastianos, Alexandra Alexopoulou. Benign Recurrent Intrahepatic Cholestasis: Where Are We Now?. Gastroenterology Insights 2024; 15(1) doi: 10.3390/gastroent15010011
17
Fatma Ilknur Varol. Liver transplantation in pediatric monogenic metabolic diseases. Trends in Pediatrics 2023; 4(4) doi: 10.59213/TP.2023.36025
18
Hamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A. Al‐Hussaini, Sara Algubaisi, Awad Albassami, Nasser AlMasri, Yasir Alrusayni, Ibrahim M. Alruzug, Essa Alharby, Manar A. Samman, Syed Zubair Ayoub, Sateesh Maddirevula, Roy W. A. Peake, Fowzan S. Alkuraya, Sami Wali, Naif A. M. Almontashiri. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. Journal of Human Genetics 2021; 66(2) doi: 10.1038/s10038-020-0811-1
19
Sriram Amirneni, Nils Haep, Mohammad A Gad, Alejandro Soto-Gutierrez, James E Squires, Rodrigo M Florentino. Molecular overview of progressive familial intrahepatic cholestasis. World Journal of Gastroenterology 2020; 26(47): 7470-7484 doi: 10.3748/wjg.v26.i47.7470
20
Sara Hassan, Ahmad Anouti, Queenie K.G. Tan, Kirk Wangensteen, Amal Aqul. Liver transplantation for pediatric genetic and metabolic disorders. Liver Transplantation 2025; 31(6) doi: 10.1097/LVT.0000000000000454
21
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi. Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis. JHEP Reports 2024; 6(1) doi: 10.1016/j.jhepr.2023.100949
22
Tamir Diamond, Kathleen M. Loomes. Pediatric Gastrointestinal and Liver Disease. 2026;  doi: 10.1016/B978-0-443-11760-2.00071-9
23
Guillaume Morcrette, Monique Fabre. Biopsie hépatique dans la prise en charge des cholestases de l’enfant. Revue Francophone des Laboratoires 2023; 2022(548) doi: 10.1016/S1773-035X(22)00405-1
24
Ryan T. Fischer, Emily Ventura, James E. Squires, Walter Perez, Akihiro Asai, Melissa Kochanowsky, Benjamin L. Shneider, Gitta H. Lubke. Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry. Journal of Pediatric Gastroenterology and Nutrition 2026; 82(4) doi: 10.1002/jpn3.70366
25
Anu K. Vasudevan, Naresh Shanmugam, Ashwin Rammohan, Joseph J. Valamparampil, Kshetra Rinaldhy, Jagadeesh Menon, Ravikumar Thambithurai, Saravanapandian Namasivayam, Ilankumaran Kaliamoorthy, Mohamed Rela. Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis. Pediatric Transplantation 2023; 27(8) doi: 10.1111/petr.14600
26
Burcu GÜVEN. ÇOCUKLARDA KRONİK KARACİĞER HASTALIKLARINA YAKLAŞIM. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi 2020; 22(1) doi: 10.24938/kutfd.692278
27
Huayu Chen, Dongbo Wu, Wei Jiang, Ting Lei, Changli Lu, Taoyou Zhou. Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1. Frontiers in Medicine 2021; 8 doi: 10.3389/fmed.2021.705489
28
Rim Belhadj, Ines Maaloul, Wissem Besghaier, Roeya Kolsi, Naoual Sabaouni, Frank Broly, Thouraya Kamoun. Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene. BMC Pediatrics 2025; 25(1) doi: 10.1186/s12887-025-05980-3
29
Beatriz Mínguez Rodríguez, Cristina Molera Busoms, Loreto Martorell Sampol, Ruth García Romero, Gemma Colomé Rivero, Javier Martín de Carpi. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. Gastroenterología y Hepatología (English Edition) 2022; 45(8) doi: 10.1016/j.gastre.2021.12.004
30
Patrick J. McKiernan, James E. Squires, Robert H. Squires, Jerry Vockley, George V. Mazariegos, Kyle Soltys, Armando Ganoza, Kevin Strauss, Ajai Khanna, Rakesh Sindhi. Liver transplant for inherited metabolic disease among siblings. Clinical Transplantation 2020; 34(11) doi: 10.1111/ctr.14090
31
Johanna M. Ascher Bartlett, Jay Shah. Benign Hematologic Disorders in Children. 2021;  doi: 10.1007/978-3-030-49980-8_24
32
Adriana C. Norris, Alexander J. Mansueto, Mariana Jimenez, Eugenia M. Yazlovitskaya, Bhawik K. Jain, Todd R. Graham. Flipping the script: Advances in understanding how and why P4-ATPases flip lipid across membranes. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2024; 1871(4) doi: 10.1016/j.bbamcr.2024.119700
33
34
Mazen Noureddin, Suntje Sander-Struckmeier, José M Mato. Early treatment efficacy of S-adenosylmethionine in patients with intrahepatic cholestasis: A systematic review. World Journal of Hepatology 2020; 12(2): 46-63 doi: 10.4254/wjh.v12.i2.46
35
Gaël A. Kornitzer, Fernando Alvarez. Case Report. JPGN Reports 2021; 2(3) doi: 10.1097/PG9.0000000000000087
36
37
Seema Alam, Bikrant Bihari Lal. Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies. World Journal of Hepatology 2022; 14(1): 98-118 doi: 10.4254/wjh.v14.i1.98
38
Sojeong Yi, Insook Kim, Rebecca Hager, Marian M. Strazzeri, Lili Garrard, Toru Matsubayashi, Ruby Mehta. Food and Drug Administration Approval Summary: Odevixibat (Bylvay) for the Treatment of Pruritus With Progressive Familial Intrahepatic Cholestasis. Gastro Hep Advances 2025; 4(4) doi: 10.1016/j.gastha.2024.100596
39
Beatriz Mínguez Rodríguez, Cristina Molera Busoms, Loreto Martorell Sampol, Ruth García Romero, Gemma Colomé Rivero, Javier Martín de Carpi. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. Gastroenterología y Hepatología 2022; 45(8) doi: 10.1016/j.gastrohep.2021.12.005
40
Non-Neoplastic Diseases of the Liver. 2022;  doi: 10.55418/9781933477183-6
41
R.A. GUDKOV, A.V. DMITRIEV, N.V. FEDINA, V.I. PETROVA. PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN. AVICENNA BULLETIN 2024; 27(1) doi: 10.25005/2074-0581-2025-27-1-143-154
42
Stanisław M. Jurk, Andreas E. Kremer, Ekkehard Schleussner. Intrahepatic Cholestasis of Pregnancy. Geburtshilfe und Frauenheilkunde 2021; 81(08) doi: 10.1055/a-1522-5178
43
Milena Marx, Steffen Hartleif, Johannes Hilberath, Christoph P. Berg, Ilias Tsiflikas, Stephan Singer, Ekkehard Sturm. Practical Considerations for Odevixibat Treatment in Patients with Progressive Familial Intrahepatic Cholestasis: A Single-Center Case Series. Journal of Clinical Medicine 2024; 13(24) doi: 10.3390/jcm13247508
44
Pragathi LK, Samriddhi Poyekar, Dhruv Gandhi, Sachi Kalawadia, Ira Shah. Cholestatic liver disease in an adolescent: don’t forget progressive familial intrahepatic Cholestasis-8. Oxford Medical Case Reports 2026; 2026(3) doi: 10.1093/omcr/omag022
45
Fatma İlknur Varol, Mukadder Ayşe Selimoğlu, Şükrü Güngör, Sezai Yılmaz, İbrahim Tekedereli. Single-center experience in management of progressive familial intrahepatic cholestasis. Arab Journal of Gastroenterology 2021; 22(4) doi: 10.1016/j.ajg.2021.05.021
46
Mariano Piazzolla, Nicola Castellaneta, Antonio Novelli, Emanuele Agolini, Dario Cocciadiferro, Leonardo Resta, Loren Duda, Michele Barone, Enzo Ierardi, Alfredo Di Leo. Nonsense variant of <i>ATP8B1</i> gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature. World Journal of Hepatology 2020; 12(2): 64-71 doi: 10.4254/wjh.v12.i2.64
47
Namita Roy-Chowdhury, Patrik Asp, Chandan Guha, Jayanta Roy-Chowdhury. Hepatology. 2025;  doi: 10.1016/B978-0-443-26710-9.00003-1
48
Julie Gallagher, Shari Sheflin-Findling. Hepatology. 2025;  doi: 10.1016/B978-0-443-26710-9.00017-1
49
Nihal Uyar Aksu, Orhan Görükmez, Özlem Görükmez, Ayşen Uncuoğlu. A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis. Cureus 2021;  doi: 10.7759/cureus.19326
50
James E. Squires, Gitta H. Lubke, Emily Ventura, Alexandra Perez, Paula M. Hertel, Emily R. Perito, Laura Bull, Melissa Kochanowsky. Identifying patient‐centered outcomes in progressive familial intrahepatic cholestasis: Results from IMPACT. Journal of Pediatric Gastroenterology and Nutrition 2026; 83(2) doi: 10.1002/jpn3.70455
51
Roger W Chapman, Kate D Lynch. Obeticholic acid—a new therapy in PBC and NASH. British Medical Bulletin 2020; 133(1) doi: 10.1093/bmb/ldaa006
52
Christoph Jüngst, Christina Justinger, Janett Fischer, Thomas Berg, Frank Lammert. Common <b><i>ABCB4</i></b> and <b><i>ABCB11</i></b> Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults. Digestive Diseases 2022; 40(4) doi: 10.1159/000518203
53
Zhang Huimin, Wang Yuan, Xu Chuanyan, Chen Jing. Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant. Frontiers in Gastroenterology 2025; 4 doi: 10.3389/fgstr.2025.1435168
54
Namita Roy-Chowdhury, Chandan Guha, Jayanta Roy-Chowdhury. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. 2022;  doi: 10.1007/978-3-030-67727-5_58
55
Simon P Horslen, Georg Vogel, Jolan Terner-Rosenthal, Nadav Zadok, Lorenzo D'Antiga. Progressive familial intrahepatic cholestasis disease burden and clinical approaches: a systematic review. Journal of Comparative Effectiveness Research 2026;  doi: 10.57264/cer-2026-0047
56
Hongxue Liu, Haidong Wang, Muling Zhang, Ahmed Faeq Hussein. Deep Learning Algorithm-Based Magnetic Resonance Imaging Feature-Guided Serum Bile Acid Profile and Perinatal Outcomes in Intrahepatic Cholestasis of Pregnancy. Computational and Mathematical Methods in Medicine 2022; 2022 doi: 10.1155/2022/8081673
57
Sophia Giang, Ruth Lillian Gordon, Kelly B. Haas. A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis. ACG Case Reports Journal 2021; 8(4) doi: 10.14309/crj.0000000000000558
58
Carol Jean Potter. Cholestasis in the Premature Infant. Clinics in Perinatology 2020; 47(2) doi: 10.1016/j.clp.2020.02.009
59
Richa Gupta, Rodrigo M. Florentino, Amala Alenchery, Lara E. Berklite, James E. Squires. Molecular Mechanisms of Progressive Familial Intrahepatic Cholestasis. Seminars in Liver Disease 2026; 46(02) doi: 10.1055/a-2933-3012
60
Stanisƚaw Jurk, Andreas Kremer, Ekkehard Schleussner. The Latest on Intrahepatic Cholestasis of Pregnancy – Update 2026. Geburtshilfe und Frauenheilkunde 2026; 86(06) doi: 10.1055/a-2845-6610
61
Connie Chen, James E. Squires. Pediatric Gastrointestinal and Liver Disease. 2026;  doi: 10.1016/B978-0-443-11760-2.00078-1
62
Antonia Felzen, Henkjan J. Verkade. The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments. European Journal of Medical Genetics 2021; 64(11) doi: 10.1016/j.ejmg.2021.104317
63
Lander Heyerick, Annemieke Dhondt, Hans Van Vlierberghe, Xavier Verhelst, Sarah Raevens, Anja Geerts. Early plasmapheresis in type 2 benign recurrent intrahepatic cholestasis: A case report and review of literature. World Journal of Hepatology 2025; 17(2): 102375 doi: 10.4254/wjh.v17.i2.102375
64
Katherine Cheng, Philip Rosenthal. Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis. Hepatology Communications 2023; 7(12) doi: 10.1097/HC9.0000000000000314
65
Lama Ebrahim Mkarem, Mohammed Ali Hosny Batika, Rana Bitar. New hope in treating progressive familial intrahepatic cholestasis in children. World Journal of Hepatology 2025; 17(7): 108253 doi: 10.4254/wjh.v17.i7.108253
66
Shuying Xie, Shizhang Wei, Xiao Ma, Ruilin Wang, Tingting He, Zhao Zhang, Ju Yang, Jiawei Wang, Lei Chang, Manyi Jing, Haotian Li, Xuelin Zhou, Yanling Zhao. Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis. Frontiers in Pharmacology 2023; 14 doi: 10.3389/fphar.2023.1173542
67
Roni F. Kunst, Marije Niemeijer, Luc J.W. van der Laan, Bart Spee, Stan F.J. van de Graaf. From fatty hepatocytes to impaired bile flow: Matching model systems for liver biology and disease. Biochemical Pharmacology 2020; 180 doi: 10.1016/j.bcp.2020.114173
68
Maitane Asensio, Sara Ortiz-Rivero, Ana Morente-Carrasco, Jose J. G. Marin. Etiopathogenesis and pathophysiology of cholestasis. Exploration of Digestive Diseases 2022;  doi: 10.37349/edd.2022.00008
69
Sara Hassan, Paula Hertel. Overview of Progressive Familial Intrahepatic Cholestasis. Clinics in Liver Disease 2022; 26(3) doi: 10.1016/j.cld.2022.03.003
70
Carol Potter. The Role of a NICU Hepatology Consult Service in Assessing Liver Dysfunction in the Premature Infant. JPGN Reports 2021; 2(1) doi: 10.1097/PG9.0000000000000031
71
R. A. Gudkov, A. V. Dmitriev, N. V. Fedina, V. I. Petrova, E. E. Blokhova, M. R. Terzieva. Progressive familial intrahepatic cholestasis: a brief review of the literature and our own clinical observation. Experimental and Clinical Gastroenterology 2024; (7) doi: 10.31146/1682-8658-ecg-227-7-100-105
72
James E. Squires, Simon P. Horslen. CAQ Corner: Genetic liver disease. Liver Transplantation 2022; 28(7) doi: 10.1002/lt.26467
73
Sarah A.F. Henkel, Claudia M. Salgado, Miguel Reyes‐Mugica, Kyle A. Soltys, Kevin Strauss, George V. Mazariegos, Robert H. Squires, Patrick J. McKiernan, Xingyu Zhang, James E. Squires. Long‐term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience. Pediatric Transplantation 2021; 25(8) doi: 10.1111/petr.14108
74
Alberto Quaglia, Eve A. Roberts, Michael Torbenson. MacSween's Pathology of the Liver. 2024;  doi: 10.1016/B978-0-7020-8228-3.00003-X
75
Leilei Yu, Yaru Liu, Shunhe Wang, Qingsong Zhang, Jianxin Zhao, Hao Zhang, Arjan Narbad, Fengwei Tian, Qixiao Zhai, Wei Chen. Cholestasis: exploring the triangular relationship of gut microbiota-bile acid-cholestasis and the potential probiotic strategies. Gut Microbes 2023; 15(1) doi: 10.1080/19490976.2023.2181930
76
Laura Guerrero, Lorena Carmona‐Rodríguez, Fátima Milhano Santos, Sergio Ciordia, Luiz Stark, Loreto Hierro, Pablo Pérez‐Montero, David Vicent, Fernando J. Corrales. Molecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study. BioFactors 2024; 50(4) doi: 10.1002/biof.2041
77
Nawar S. Mohammed, Zahraa Q. Ali, Aseel Sameer Mohamed, Sazan Abdulwahab Mirza. The impact of methamphetamine on liver injury in Iraqi male addicts. Toxicology Reports 2024; 13 doi: 10.1016/j.toxrep.2024.101806
78
Suvradeep Mitra, Mukul Vij, Jagadeesh Menon, Naresh Shanmugum, Mohamed Rela. Pathology of Progressive Familial Intrahepatic Cholestasis: An update. Pediatric and Developmental Pathology 2026; 29(3) doi: 10.1177/10935266261429304
79
Anna Maria Kavallar, Christoph Mayerhofer, Denise Aldrian, Tatsuya Okamoto, Thomas Müller, Georg Friedrich Vogel. Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis. Hepatology Communications 2023; 7(10) doi: 10.1097/HC9.0000000000000286
80
Sarah M. Bedoyan, Olya T. Lovell, Simon P. Horslen, James E. Squires. Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis. Expert Opinion on Pharmacotherapy 2022; 23(16) doi: 10.1080/14656566.2022.2140040