| For: | Vinayagamoorthy V, Srivastava A, Sarma MS. Newer variants of progressive familial intrahepatic cholestasis. World J Hepatol 2021; 13(12): 2024-2038 [PMID: 35070006 DOI: 10.4254/wjh.v13.i12.2024] |
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| URL: | https://www.wjgnet.com/1948-5182/full/v13/i12/2024.htm |
| Number | Citing Articles |
| 1 |
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
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| 2 |
Giovanni Vitale, Marco Sciveres, Claudia Mandato, Adamo Pio d’Adamo, Angelo Di Giorgio. Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review. Orphanet Journal of Rare Diseases 2025; 20(1) doi: 10.1186/s13023-025-03599-2
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| 3 |
Bertrand Roquelaure, Marco Sciveres, Tassos Grammatikopoulos, Eberhard Lurz, Folke Freudenberg, Dalila Habes, Lionel Thevathasan, Fatine Elaraki, Emmanuel Gonzales. Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series. Orphanet Journal of Rare Diseases 2025; 20(1) doi: 10.1186/s13023-025-03728-x
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| 4 |
Bikrant Bihari Lal, Seema Alam, Anupam Sibal, Karunesh Kumar, Somashekara Hosaagrahara Ramakrishna, Vaibhav Shah, Nirmala Dheivamani, Ashish Bavdekar, Aabha Nagral, Nishant Wadhwa, Arjun Maria, Aashay Shah, Ira Shah, Zahabiya Nalwalla, Pandey Snehavardhan, K.P. Srikanth, Subhash Gupta, Viswanathan M. Sivaramakrishnan, Yogesh Waikar, Arya Suchismita, A. Ashritha, Vikrant Sood, Rajeev Khanna. Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency–related cholestasis. Hepatology 2024; 80(3) doi: 10.1097/HEP.0000000000000828
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| 5 |
Mahintaj Dara, Negar Azarpira, Nasrin Motazedian, Mahdokht Hossein-Aghdaie, Seyed-Mohsen Dehghani, Bita Geramizadeh, Elaheh Esfandiari. Expression of miR-let7b and miR-19b in progressive familial intrahepatic cholestasis (PFIC) children. Gastroenterología y Hepatología (English Edition) 2024; 47(1) doi: 10.1016/j.gastre.2023.03.003
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| 6 |
Nasrin Motazedian, Seyed Mohsen Dehghani, Alireza Shamsaeefar, Kourosh Kazemi, Ali Ghorbanpour, Mehrab Sayadi, Maryam Ataollahi, Seyed Ali Moosavi, Saman Nikeghbalian. Natural history and the outcome of complications of children with progressive familial intrahepatic cholestasis in a resource-limited setting: A cohort study. Arab Journal of Gastroenterology 2026; 27(3) doi: 10.1016/j.ajg.2026.06.001
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| 7 |
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul. Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study. American Journal of Medical Genetics Part A 2026; doi: 10.1002/ajmg.a.70250
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| 8 |
Magdolna Nagy, Markus Bender, Natalie S. Poulter, Jeremy A. Pike, Albert Sickmann, Sonja Vondenhoff, Natalia Bielicka, Marc A.M.J. van Zandvoort, Rory R. Koenen, Hugo ten Cate, Xavier Stéphenne, Johan W.M. Heemskerk, Constance C.F.M.J. Baaten. Formation of tight junction-like structures of zonula occludens 2 in platelet–platelet interaction. Research and Practice in Thrombosis and Haemostasis 2025; 9(3) doi: 10.1016/j.rpth.2025.102845
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| 9 |
Vipul Gautam, Kalpana Panda, Vikram Kumar, Shaleen Agarwal, Subhash Gupta. Youngest Living Donor Liver Transplant for End‐Stage Liver Disease in a 6‐Month‐Old With a Novel Aggressive Mutation in KIF12 Gene. Pediatric Transplantation 2024; 28(5) doi: 10.1111/petr.14804
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| 10 |
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb. Progressive familial intrahepatic cholestasis type 4: a case report. Journal of Medical Case Reports 2024; 18(1) doi: 10.1186/s13256-024-04662-5
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| 11 |
Guillermo Alejandro Costaguta, Fernando Álvarez. Pediatric cirrhosis: special consideration for its diagnosis and management. Exploration of Digestive Diseases 2025; 4 doi: 10.37349/edd.2025.1005104
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| 12 |
Fernando Gil-Lopez, Lydia A. Mercado, Nicole M. Loo. Remarkable Response to Odevixibat in an Adult With Progressive Familial Intrahepatic Cholestasis Type 1 and Intractable Pruritus. ACG Case Reports Journal 2026; 13(3) doi: 10.14309/crj.0000000000002033
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| 13 |
Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Raghav Lal, Arnab Pal, Nandita Kakkar, Sadhna Bhasin Lal. Clinical spectrum and genotype-phenotype correlation of <i>ABCB4</i> mutations in children: Insights from a North Indian cohort. World Journal of Hepatology 2026; 18(1): 113485 doi: 10.4254/wjh.v18.i1.113485
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| 14 |
Dalal Ben Sabbahia, Meriem Atrasssi, Nissrine Bennani, Abdelhakim Benmoussa, Abdelhak Abkari. ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis. JPGN Reports 2024; 5(4) doi: 10.1002/jpr3.12111
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| 15 |
Sayali Shinde, Carola Maria Bigogno, Ana Simmons, Nikita Kathuria, Aruni Ghose, Vedika Apte, Patricia Lapitan, Shania Makker, Aydin Caglayan, Stergios Boussios. Precision oncology through next generation sequencing in hepatocellular carcinoma. Heliyon 2025; 11(3) doi: 10.1016/j.heliyon.2025.e42054
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| 16 |
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
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| 17 |
Yugo Takaki, Shuichiro Umetsu, Yoshihiko Sugino, Takahiro Yamashita, Takehiko Doi, Kazuo Imagawa, Shogo Ito, Yutaro Mihara, Hisamitsu Hayashi, Ayano Inui. Lipolysis‐Stimulated Lipoprotein Receptor Gene Variants as a Cause of Progressive Familial Intrahepatic Cholestasis: A Case Report. Hepatology Research 2025; 55(11) doi: 10.1111/hepr.70003
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| 18 |
Yue Zu, Yanan Liu, Lulu Lan, Chen Zhu, Chengliang Zhang, Dong Liu. Consecutive baicalin treatment relieves its accumulation in rats with intrahepatic cholestasis by increasing MRP2 expression. Heliyon 2023; 9(1) doi: 10.1016/j.heliyon.2022.e12689
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| 19 |
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
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| 20 |
Maria Noelle Hüpper, Judith Pichler, Wolf-Dietrich Huber, Andreas Heilos, Rebecca Schaup, Martin Metzelder, Sophie Langer. Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis—Case Compilation and Review of the Literature. Children 2023; 10(6) doi: 10.3390/children10060949
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| 21 |
Elton Dajti, Valeria Tripodi, Yayi Hu, Maria Cecilia Estiù, Dan Shan, Giuseppe Mazzella, Francesco Azzaroli. Intrahepatic cholestasis of pregnancy. Nature Reviews Disease Primers 2025; 11(1) doi: 10.1038/s41572-025-00633-2
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| 22 |
Harry Sutton, Saul J. Karpen, Binita M. Kamath. Pediatric Cholestatic Diseases: Common and Unique Pathogenic Mechanisms. Annual Review of Pathology: Mechanisms of Disease 2024; 19(1) doi: 10.1146/annurev-pathmechdis-031521-025623
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| 23 |
Amy B. Kolbe, Michael R. Acord, Geetika Khanna, Cara E. Morin, HaiThuy N. Nguyen, Mitchell A. Rees, Esther Ro, Gary R. Schooler, Judy H. Squires, Ali B. Syed, Elizabeth R. Tang, Alexander J. Towbin, Adina Alazraki. Imaging Findings and Management Strategies for Liver Masses in Children with Predisposition Disorders: A Review by the Pediatric LI-RADS Group. RadioGraphics 2025; 45(1) doi: 10.1148/rg.240063
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| 24 |
Ahmad Basil Nasir, Naim Alkhouri, Robert Gish, Ajay K. Jain, Wing-Kin Syn. Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults. Digestive Diseases and Sciences 2026; 71(3) doi: 10.1007/s10620-025-09431-y
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| 25 |
Deanna M. Bowman, Izumi Kaji, James R. Goldenring. Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level. Cellular and Molecular Gastroenterology and Hepatology 2022; 14(3) doi: 10.1016/j.jcmgh.2022.04.015
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| 26 |
Raima Memon, Romil Saxena. Molecular Advances in Cholestatic Liver Diseases. Advances in Anatomic Pathology 2025; 32(6) doi: 10.1097/PAP.0000000000000502
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| 27 |
Tingting Lv, Jidong Jia. Rare liver diseases are not rare in China. Liver International 2022; 42(9) doi: 10.1111/liv.15267
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| 28 |
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
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| 29 |
Binbin Liu, Jie Zhang, Lu Shao, Jiaming Yao, Shuli Yang. San-Huang-Chai-Zhu Formula Ameliorates Liver Injury in Intrahepatic Cholestasis through Suppressing SIRT1/PGC-1α-Regulated Mitochondrial Oxidative Stress. Evidence-Based Complementary and Alternative Medicine 2022; 2022 doi: 10.1155/2022/7832540
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| 30 |
Anar Tagiyev, Asiman Atayeva. A Rare Cause of Portal Hypertension: ZFYVE19 Gene Mutation. Caucasian Medical Journal 2025; 3(3) doi: 10.4274/cmj.galenos.2025.63835
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| 31 |
T. N. Belkova, E. B. Pavlinova, K. B. Kurieva, Yu. E. Golovanova, A. Yu. Konstantinova, A. Kh. Begjanova. A case report of progressive familial intrahepatic cholestasis in neonatal practice. Meditsinskiy sovet = Medical Council 2024; (11) doi: 10.21518/ms2024-216
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| 32 |
Angela Pepe, Angelo Colucci, Martina Carucci, Lucia Nazzaro, Cristina Bucci, Giusy Ranucci, Angelo Di Giorgio, Pietro Vajro, Claudia Mandato. Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis. Frontiers in Pediatrics 2023; 11 doi: 10.3389/fped.2023.1061535
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| 33 |
Lakshmi Suresh, Jagadeesh Menon, Naresh Shanmugam, Mukul Vij, Ashwin Rammohan, Mohamed Rela. First Report of Living Donor Liver Transplantation for NR1H4 Disease. Pediatric Transplantation 2025; 29(7) doi: 10.1111/petr.70175
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| 34 |
Angelo Di Giorgio, Marco Sciveres, Maurizio Fuoti, PierLuigi Calvo, Mara Cananzi, Ana Lleo, Simona Gatti, Giuseppe Indolfi, Annalisa Madeo, Claudia Mandato, Federica Nuti, Chiara Zanchi, Greta Carioli, Arianna Ghirardi, Emanuele Nicastro, Lorenzo D’Antiga. Real-world experience with odevixibat in children with progressive familial intrahepatic cholestasis. JHEP Reports 2025; 7(4) doi: 10.1016/j.jhepr.2024.101309
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| 35 |
Angelo Di Giorgio, Marco Sciveres, Maurizio Fuoti, Aurelio Sonzogni, Claudia Mandato, Lorenzo D'Antiga. Treatment with an ileal bile acid transporter inhibitor in patients with TJP2 deficiency. Clinics and Research in Hepatology and Gastroenterology 2023; 47(8) doi: 10.1016/j.clinre.2023.102185
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| 36 |
K. S. Nezhdanov, E. N. Shirokova, Yu. O. Shulpekova, A. S. Ostrovskaya, M. S. Zharkova, V. T. Ivashkin. A 19-year-old Patient with Recurrent Pruritus and Jaundice. Russian Journal of Gastroenterology, Hepatology, Coloproctology 2023; 33(3) doi: 10.22416/1382-4376-2023-33-3-66-75
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| 37 |
S. Ya. Volgina, N. A. Solovieva, G. A. Kulakova, E. A. Kurmaeva, A. I. Mukhamadieva, R. R. Shaydullina. Genetic and phenotypic features familial intrahepatic cholestasis: case report. Experimental and Clinical Gastroenterology 2026; (1) doi: 10.31146/1682-8658-ecg-245-1-143-152
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| 38 |
Muhammad Imran, Ahmed B. Elsnhory, Ahmed A. Ibrahim, Mohamed Elnaggar, Muhammad S. Tariq, Areeba M. Mehmood, Shujaat Ali, Saba Khalil, Sheharyar H. Khan, Mansab Ali, Mohamed Abuelazm. Efficacy and Safety of Ileal Bile Acid Transport Inhibitors in Inherited Cholestatic Liver Disorders: A Meta-analysis of Randomized Controlled Trials. Journal of Clinical and Experimental Hepatology 2025; 15(3) doi: 10.1016/j.jceh.2024.102462
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| 39 |
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
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| 40 |
Mahintaj Dara, Negar Azarpira, Nasrin Motazedian, Mahdokht Hossein-Aghdaie, Seyed-Mohsen Dehghani, Bita Geramizadeh, Elaheh Esfandiari. Expression of miR-let7b and miR-19b in progressive familial intrahepatic cholestasis (PFIC) children. Gastroenterología y Hepatología 2024; 47(1) doi: 10.1016/j.gastrohep.2023.03.001
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| 41 |
Rachel M. Golonka, Beng San Yeoh, Piu Saha, Amira Gohara, Ramakumar Tummala, Stanislaw Stepkowski, Amit K. Tiwari, Bina Joe, Frank J. Gonzalez, Andrew T. Gewirtz, Matam Vijay-Kumar. Loss of toll-like receptor 5 potentiates spontaneous hepatocarcinogenesis in farnesoid X receptor–deficient mice. Hepatology Communications 2023; 7(6) doi: 10.1097/HC9.0000000000000166
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| 42 |
Ikuo Tomioka, Chihiro Ota, Yuka Tanahashi, Kayoko Ikegami, Ayaka Ishihara, Nanami Kohri, Hiroshi Fujii, Kanako Morohaku. Loss of the DNA-binding domain of the farnesoid X receptor gene causes severe liver and kidney injuries. Biochemical and Biophysical Research Communications 2024; 721 doi: 10.1016/j.bbrc.2024.150125
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| 43 |
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
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| 44 |
Coşkun Fırat Özkeçeci, Melike Arslan, Edibe Gözde Başaran, Yasin Maruf Ergen, Önder Bozdoğan, Necati Balamtekin. Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: <i>ZFYVE19 </i>mutation. The Turkish Journal of Pediatrics 2024; 66(4) doi: 10.24953/turkjpediatr.2024.4655
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| 45 |
Piper R. McKee, Rachel Edens-Valentine, Rachel Stubler, Renata Rocha do Nascimento, Charulekha Packirisamy, Casper van Altena, Lauren Giordano, Colleen LeBlanc, Selene Shore, Jessica H. Hartman, Robin Muise-Helmricks, Andrew Percy, Thomas D. Horvath, Kristen A. Engevik, Melinda A. Engevik, Amy C. Engevik. Myosin 5b deficiency alters liver proliferation, zonation, and bile acid composition. Hepatology Communications 2026; 10(3) doi: 10.1097/HC9.0000000000000899
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| 46 |
Brandon Vu, Ryo Kawamoto, Priscila Villalba-Davila, Xinzhong Dong, Wikrom Karnsakul. Bile acids as therapeutic agents. Frontiers in Pharmacology 2026; 16 doi: 10.3389/fphar.2025.1732854
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| 47 |
Nicole Heinz, Jennifer Vittorio. Treatment of Cholestasis in Infants and Young Children. Current Gastroenterology Reports 2023; 25(11) doi: 10.1007/s11894-023-00891-8
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| 48 |
Chiao‐Yu Yang, Hung‐Wen Tsai, Yen‐Yin Chou, Yao‐Jong Yang. NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review. Clinical Case Reports 2024; 12(2) doi: 10.1002/ccr3.8531
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| 49 |
Ali Islek, Serap Ketenci İşlek, Gokhan Tumgor. Progressive familial intrahepatic cholestasis: From childhood to adulthood. World Journal of Gastroenterology 2026; 32(41): 121544 doi: 10.3748/wjg.121544
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| 50 |
Arghya Samanta, Neha Parveen, Moinak Sen Sarma, Ujjal Poddar, Anshu Srivastava. Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children. Journal of Clinical and Experimental Hepatology 2024; 14(2) doi: 10.1016/j.jceh.2023.10.001
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| 51 |
Joanna Głowska-Ciemny, Marcin Szymanski, Agata Kuszerska, Rafał Rzepka, Constantin S. von Kaisenberg, Rafał Kocyłowski. Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases. Cancers 2023; 15(17) doi: 10.3390/cancers15174302
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| 52 |
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
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| 53 |
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
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| 54 |
Dr Moinak Sen Sarma, Chiranjit Gope. Approach to a Sick Neonate with Cholestasis in India. Annals of Pediatric Gastroenterology & Hepatology 2022; 4(2) doi: 10.5005/jp-journals-11009-0094
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