Research & Literature

Acute Liver Failure in Infants and Young Children in a Specialized Pediatric Liver Centre in India.

Alam S, Lal BB, Khanna R, et al.

Indian journal of pediatrics 2015; (82(10)):879-83 doi:10.1007/s12098-014-1638-6.

Difficulty Achieving Vitamin D Sufficiency With High-Dose Oral Repletion Therapy in Infants With Cholestasis.

Jensen M, Abu-El-Haija M, Bishop W, Rahhal RM

Journal of pediatric gastroenterology and nutrition 2015; (61(2)):187-9 doi:10.1097/MPG.0000000000000751.

Baseline Analysis of a Young α-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension.

Teckman JH, Rosenthal P, Abel R, et al.

Journal of pediatric gastroenterology and nutrition 2015; (61(1)):94-101 doi:10.1097/MPG.0000000000000753.

Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Vaz FM, Huidekoper HH, Paulusma CC

Digestive diseases (Basel, Switzerland) 2017; (35(3)):259-260 doi:10.1159/000450984.

[Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study].

Song YZ, Deng M

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017; (19(3)):350-354.

Neonatal Cholestasis.

Lane E, Murray KF

Pediatric clinics of North America 2017; (64(3)):621-639 doi:10.1016/j.pcl.2017.01.006.

[Physiopathology and management of cholestatic pruritus in children].

Thébaut A, Debray D, Gonzales E

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(7)):682-688 doi:10.1016/j.arcped.2017.04.004.

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R, Chen C, Xia X, et al.

Scientific reports 2017; (7(1)):9214 doi:10.1038/s41598-017-07012-2.

An update on the physiopathology and therapeutic management of cholestatic pruritus in children.

Thébaut A, Debray D, Gonzales E

Clinics and research in hepatology and gastroenterology 2018; (42(2)):103-109 doi:10.1016/j.clinre.2017.08.007.

Evaluation of vitamin D status bone mineral density and dental health in children with cholestasis.

Samra NM, Emad El Abrak S, El Dash HH, et al.

Clinics and research in hepatology and gastroenterology 2018; (42(4)):368-377 doi:10.1016/j.clinre.2017.11.010.

[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency].

Li H, Qiu JW, Lin GZ, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(4)):279-284.

Vitamin D non-sufficiency is prevalent in children with chronic liver disease in a tropical country.

Lee WS, Jalaludin MY, Wong SY, et al.

Pediatrics and neonatology 2019; (60(1)):12-18 doi:10.1016/j.pedneo.2018.03.011.

Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report.

Tan HJ, Deng M, Qiu JW, et al.

Frontiers in pediatrics 2018; (6()):354 doi:10.3389/fped.2018.00354.

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

Nicastro E, Di Giorgio A, Marchetti D, et al.

The Journal of pediatrics 2019; (211()):54-62.e4 doi:10.1016/j.jpeds.2019.04.016.

Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency.

Mao F, Liu T, Hou X, et al.

The Journal of biological chemistry 2019; (294(31)):11853-11862 doi:10.1074/jbc.RA118.007179.

Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients.

Dong C, Zhang BP, Wang H, et al.

Medicine 2019; (98(39)):e17305 doi:10.1097/MD.0000000000017305.

Vitamin K Deficiency Bleeding in Infancy.

Araki S, Shirahata A

Nutrients 2020; (12(3)) doi:10.3390/nu12030780.

Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency.

Yan YY, Wang MX, Gong JY, et al.

Journal of pediatric gastroenterology and nutrition 2020; (71(5)):e138-e141 doi:10.1097/MPG.0000000000002862.

Practical approach to imaging diagnosis of biliary atresia, Part 1: prenatal ultrasound and magnetic resonance imaging, and postnatal ultrasound.

Napolitano M, Franchi-Abella S, Damasio MB, et al.

Pediatric radiology 2021; (51(2)):314-331 doi:10.1007/s00247-020-04840-9.

Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative.

van Wessel DBE, Gonzales E, Hansen BE, Verkade HJ

European journal of medical genetics 2021; (64(7)):104245 doi:10.1016/j.ejmg.2021.104245.

Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Zou TT, Zhu Y, Wan CM, Liao Q

Translational pediatrics 2021; (10(4)):1045-1054 doi:10.21037/tp-20-360.

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Deng LJ, Ouyang WX, Liu R, et al.

Liver international : official journal of the International Association for the Study of the Liver 2021; (41(11)):2720-2728 doi:10.1111/liv.15031.

Complete Absence of the Extrahepatic Biliary Tree in a Newborn With Pigmented Stools.

Hartmann P, Carter R, Keller B, et al.

Pediatrics 2021; (148(1)) doi:10.1542/peds.2020-038596.

Malnutrition in Pediatric Chronic Cholestatic Disease: An Up-to-Date Overview.

Tessitore M, Sorrentino E, Schiano Di Cola G, et al.

Nutrients 2021; (13(8)) doi:10.3390/nu13082785.

Fat-soluble vitamin assessment, deficiency and supplementation in infants with cholestasis.

Mancell S, Islam M, Dhawan A, Whelan K

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2022; (35(2)):273-279 doi:10.1111/jhn.12957.

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group.

Ranucci G, Della Corte C, Alberti D, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2022; (54(1)):40-53 doi:10.1016/j.dld.2021.09.011.

Sodium taurocholate co-transporting polypeptide deficiency.

Schneider AL, Köhler H, Röthlisberger B, et al.

Clinics and research in hepatology and gastroenterology 2022; (46(3)):101824 doi:10.1016/j.clinre.2021.101824.

Newborn Screening for Biliary Atresia: a Review of Current Methods.

Rabbani T, Guthery SL, Himes R, et al.

Current gastroenterology reports 2021; (23(12)):28 doi:10.1007/s11894-021-00825-2.

Emergencies in paediatric hepatology.

Jagadisan B, Dhawan A

Journal of hepatology 2022; (76(5)):1199-1214 doi:10.1016/j.jhep.2021.12.027.

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.

Thompson RJ, Arnell H, Artan R, et al.

The lancet. Gastroenterology & hepatology 2022; (7(9)):830-842 doi:10.1016/S2468-1253(22)00093-0.

Bile acid conjugation deficiency causes hypercholanemia, hyperphagia, islet dysfunction, and gut dysbiosis in mice.

Alrehaili BD, Lee M, Takahashi S, et al.

Hepatology communications 2022; (6(10)):2765-2780 doi:10.1002/hep4.2041.

Fat Soluble Vitamin Assessment and Supplementation in Cholestasis.

Kamath BM, Alonso EM, Heubi JE, et al.

Clinics in liver disease 2022; (26(3)):537-553 doi:10.1016/j.cld.2022.03.011.

NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis.

Yang F, Xu W, Wu L, et al.

Frontiers in endocrinology 2022; (13()):898750 doi:10.3389/fendo.2022.898750.

Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.

Quelhas P, Jacinto J, Cerski C, et al.

Healthcare (Basel, Switzerland) 2022; (10(10)) doi:10.3390/healthcare10102012.

Efficacy and safety of ursodeoxycholic acid in children with cholestasis: A systematic review and meta-analysis.

Huang L, Li S, Chen J, et al.

PloS one 2023; (18(1)):e0280691 doi:10.1371/journal.pone.0280691.

Childhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist.

Chan AP, Venick RS

Journal of clinical gastroenterology 2023; (57(7)):686-693 doi:10.1097/MCG.0000000000001850.

Resolution of Pruritus in a Child With Alagille Syndrome Treated With Maralixibat for Seven Years: Durable Response and Discontinuation of Other Medications.

Garcia A, Hsu E, Lin HC

JPGN reports 2023; (4(3)):e335 doi:10.1097/PG9.0000000000000335.

Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.

McKiernan P, Bernabeu JQ, Girard M, et al.

JHEP reports : innovation in hepatology 2024; (6(1)):100949 doi:10.1016/j.jhepr.2023.100949.

Biliary disease progression in childhood onset autoimmune liver disease: A 30-year follow-up into adulthood.

Warner S, Rajanayagam J, Russell E, et al.

JHEP reports : innovation in hepatology 2024; (6(2)):100901 doi:10.1016/j.jhepr.2023.100901.

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Hahn JW, Lee H, Shin M, et al.

Journal of gastroenterology and hepatology 2024; (39(5)):964-974 doi:10.1111/jgh.16505.

Awareness, referral and age at Kasai surgery for biliary atresia in Europe: A survey of the Quality-of-Care Task Force of ESPGHAN.

Lacaille F, Nicastro E, Czubkowski P, et al.

Journal of pediatric gastroenterology and nutrition 2024; (78(6)):1374-1382 doi:10.1002/jpn3.12186.

EASL Clinical Practice Guidelines on genetic cholestatic liver diseases.

Journal of hepatology 2024; (81(2)):303-325 doi:10.1016/j.jhep.2024.04.006.

Duodenal fluid analysis is an excellent differential diagnosis method of diseases with enterohepatic circulation disturbance.

Dong C, Liu SX, Zou B, et al.

Medicine 2025; (104(7)):e41469 doi:10.1097/MD.0000000000041469.

Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.

Gürcan Kaya N, Öztürk H, Sarı S, et al.

Journal of paediatrics and child health 2025; (61(7)):1049-1055 doi:10.1111/jpc.70072.

Carrier cross-reactivities of the bile acid reabsorption inhibitors elobixibat, linerixibat, maralixibat, and odevixibat.

Billo V, Neelen C, Wannowius M, et al.

Journal of lipid research 2025; (66(11)):100910 doi:10.1016/j.jlr.2025.100910.

Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.

Nasir AB, Alkhouri N, Gish R, et al.

Digestive diseases and sciences 2026; (71(3)):838-851 doi:10.1007/s10620-025-09431-y.

Assessment and Management of Cholestasis: Consensus Document of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP), the Spanish Association of Primary Care Pediatrics (AEPap) and the Spanish Society of Primary Care Pediatrics (SEPEAP).

Mercadal-Hally M, Loverdos I, Reyes-Andrade J, et al.

Anales de pediatria 2025; (103(6)):504034 doi:10.1016/j.anpede.2025.504034.

[Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency].

Ma RX, Luo WH, Dai YL, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(12)):1514-1519 doi:10.7499/j.issn.1008-8830.2503129.

Neonatal Cholestasis Presenting With Seizures Associated With Vitamin K Deficiency: A Case Report.

Shah BK, Paudel S

Sage open pediatrics 2026; (13()):30502225261456572 doi:10.1177/30502225261456572.

Clinical and genetic characteristics of children with sodium taurocholate cotransporting poly-peptide deficiency.

Du L, Zhou M, Yang J, et al.

Frontiers in pediatrics 2026; (14()):1784165 doi:10.3389/fped.2026.1784165.

Genotype-Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study.

Hoskins BJ, Pramparo T, Jarasvaraparn C, et al.

American journal of medical genetics. Part A 2026; doi:10.1002/ajmg.a.70250.

Adult-Onset BAAT p.Glu401Asp Mutation Linking Intrahepatic Cholestasis of Pregnancy to FXR-SREBP Dysregulation.

Agrawal D, Avula RR, Sonthalia S, et al.

Journal of clinical and experimental hepatology 2026; (16(5)):103605 doi:10.1016/j.jceh.2026.103605.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Koga S, Takei H, Tamura R, et al.

Journal of inherited metabolic disease 2026; (49(5)):e70232 doi:10.1002/jimd.70232.

Congenital Bile Acid Synthesis Defect Type 2 Mimicking Biliary Atresia: A Case Report of Delta-4-3-Oxosteroid 5-Beta-Reductase Deficiency in a Two-Month-Old Infant.

Lagrine M, Kaouani D, Elqadiry R, et al.

Cureus 2026; (18(9)):e116257 doi:10.7759/cureus.116257.

SLC10A1 variants causing NTCP deficiency in infants: clinical and functional characterization of a novel splice-site variant.

Cheng W, Chen F, Pan W, et al.

BMC pediatrics 2026; (26(1)).

Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC-MS/MS.

Bozkurt Obuz U, Demirtaş Güner D, Gümüş E, et al.

Metabolites 2026; (16(10)) doi:10.3390/metabo16100753.