Research & Literature

Biliary Atresia: Clinical Lessons Learned.

Feldman AG, Mack CL

Journal of pediatric gastroenterology and nutrition 2015; (61(2)):167-75 doi:10.1097/MPG.0000000000000755.

Nutritional evaluation of children with chronic cholestatic disease.

da Silva FV, Ferri PM, Nascentes Queiroz TC, et al.

Jornal de pediatria 2016; (92(2)):197-205.

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.

Ilhan O, Ozer EA, Ozdemir SA, et al.

Archivos argentinos de pediatria 2016; (114(1)):e9-12 doi:10.5546/aap.2016.eng.e9.

Childhood lymphoedema and 'Lymphaletics': overcoming barriers.

Todd M

British journal of nursing (Mark Allen Publishing) 2016; (25(13)):718-24 doi:10.12968/bjon.2016.25.13.718.

Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

Fawaz R, Baumann U, Ekong U, et al.

Journal of pediatric gastroenterology and nutrition 2017; (64(1)):154-168 doi:10.1097/MPG.0000000000001334.

Angioid streaks in aagenaes syndrome.

Shoumnalieva-Ivanova V, Tanev I, Zdravkov Y, et al.

International ophthalmology 2017; (37(4)):1065-1068 doi:10.1007/s10792-016-0344-y.

[Primary lymphedema in childhood].

Vignes S, Vidal F, Arrault M, Boccara O

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(8)):766-776 doi:10.1016/j.arcped.2017.05.002.

Role of Hepatobiliary Scintigraphy and Preoperative Liver Biopsy for Exclusion of Biliary Atresia in Neonatal Cholestasis Syndrome.

Mandelia A, Lal R, Mutt N

Indian journal of pediatrics 2017; (84(9)):685-690 doi:10.1007/s12098-017-2408-z.

Hereditary Lymphedema of the Leg - A Case Report.

Heinig B, Lotti T, Tchernev G, Wollina U

Open access Macedonian journal of medical sciences 2017; (5(4)):451-453 doi:10.3889/oamjms.2017.082.

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.

Prevalence of malnutrition and risk of undernutrition in hospitalised children with liver disease.

Yu R, Wang Y, Xiao Y, et al.

Journal of nutritional science 2017; (6()):e55 doi:10.1017/jns.2017.56.

Children and adolescents' experiences of primary lymphoedema: semistructured interview study.

Hanson CS, Newsom J, Singh-Grewal D, et al.

Archives of disease in childhood 2018; (103(7)):675-682 doi:10.1136/archdischild-2017-313856.

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.

Quality of life in adults with lymphedema cholestasis syndrome 1.

Iversen K, Drivdal LM, Billaud Feragen KJ, Geirdal AØ

Health and quality of life outcomes 2018; (16(1)):146 doi:10.1186/s12955-018-0972-1.

Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis.

Loomes KM, Spino C, Goodrich NP, et al.

Hepatology (Baltimore, Md.) 2019; (69(1)):245-257 doi:10.1002/hep.30196.

A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

Drivdal M, Holven KB, Retterstøl K, et al.

Scandinavian journal of clinical and laboratory investigation 2018; (78(7-8)):566-574 doi:10.1080/00365513.2018.1519723.

Surgical Management of Pediatric Lymphedema: A Systematic Review.

Kanth AM, Krevalin M, Adetayo OA, Patel A

Journal of reconstructive microsurgery 2019; (35(6)):462-470 doi:10.1055/s-0039-1681068.

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

Degtyareva AV, Proshlyakova TY, Gautier MS, et al.

BMC medical genetics 2019; (20(1)):123 doi:10.1186/s12881-019-0857-0.

Short-term Effect and Acceptability of Manual Lymphatic Drainage for Paediatric Limb Lymphoedema: A Prospective Study.

Habnouni CE, Tauveron V, Leducq S, et al.

Acta dermato-venereologica 2020; (100(8)):adv00125 doi:10.2340/00015555-3447.

Lymphedema microsurgery improved outcomes of pediatric primary extremity lymphedema.

Cheng MH, Liu TT

Microsurgery 2020; (40(7)):766-775 doi:10.1002/micr.30622.

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Vignes S, Albuisson J, Champion L, et al.

Orphanet journal of rare diseases 2021; (16(1)):18 doi:10.1186/s13023-020-01652-w.

Primary Lymphedema: Update on Genetic Basis and Management.

Sudduth CL, Greene AK

Advances in wound care 2022; (11(7)):374-381 doi:10.1089/wound.2020.1338.

A Case of Elephantiasis Nostras Verrucosa Secondary to Lymphedema Praecox Complicated by Congestive Cardiac Failure.

Khan HS, Mohsin M, Javaid M, et al.

The American journal of case reports 2021; (22()):e930269 doi:10.12659/AJCR.930269.

Paediatric Common Infections Pathways: improving antimicrobial stewardship and promoting ambulation for children presenting with common infections to hospitals in the UK and Ireland.

Horner C, Cunney R, Demirjian A, et al.

JAC-antimicrobial resistance 2021; (3(1)):dlab029 doi:10.1093/jacamr/dlab029.

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.

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.

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.

Satomura Y, Bessho K, Nawa N, et al.

Journal of medical case reports 2022; (16(1)):60 doi:10.1186/s13256-022-03279-w.

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.

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.

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.

Cholestatic Pruritus in Children: Conventional Therapies and Beyond.

Rodrigo M, Dong X, Chien D, Karnsakul W

Biology 2023; (12(5)) doi:10.3390/biology12050756.

Current Concepts in the Management of Primary Lymphedema.

Senger JB, Kadle RL, Skoracki RJ

Medicina (Kaunas, Lithuania) 2023; (59(5)) doi:10.3390/medicina59050894.

Fat-Soluble Vitamins Deficiency in Pediatric Cholestasis: A Scoping Review.

Degrassi I, Leonardi I, Di Profio E, et al.

Nutrients 2023; (15(11)) doi:10.3390/nu15112491.

Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.

Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, et al.

Journal of hepatology 2023; (79(4)):945-954 doi:10.1016/j.jhep.2023.05.037.

A Practical Approach to the Diagnosis of Lymphedema: A Narrative Review.

Banner L, Cohen A, Patel V, Nikbakht N

Dermatology practical & conceptual 2023; (13(3)) doi:10.5826/dpc.1303a132.

Medium-chain triglycerides and the impact on fat absorption, growth, nutritional status and clinical outcomes in children with cholestatic liver disease: A scoping review.

Mancell S, Manwani K, Dhawan A, Whelan K

Clinical nutrition (Edinburgh, Scotland) 2023; (42(11)):2159-2172 doi:10.1016/j.clnu.2023.09.010.

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.

Devoogdt N, Thomis S, Belva F, et al.

European journal of medical genetics 2024; (67()):104905 doi:10.1016/j.ejmg.2023.104905.

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.

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.

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Degtyareva A, Dokshukina A, Filippova E, et al.

Current pediatric reviews 2025; (21(2)):192-199 doi:10.2174/0115733963264010231213103328.

Effect of medium chain triglycerides enriched formula on growth of biliary atresia patients after Kasai portoenterostomy.

El-Koofy N, Mahmoud E, El Mougy F, et al.

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 2024; (25(2)):188-193 doi:10.1016/j.ajg.2024.01.015.

Primary lymphedema of childhood: Treatment results from a tertiary center.

Cinar E, Ata BN, Eyigor S

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024; (31(4)):245-249 doi:10.1016/j.arcped.2024.02.002.

A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome.

Tan TT, Dogan YC, Yilmaz ZB, et al.

American journal of medical genetics. Part A 2025; (197(6)):e64004 doi:10.1002/ajmg.a.64004.

Children and Young People with Lymphedema: The Education Need of Health Care Professionals.

Noble-Jones R, Thomas M

Lymphatic research and biology 2025; (23(4)):215-222 doi:10.1089/lrb.2024.0043.

Clinical characteristics of children hospitalized with cellulitis in Spain (2016-2022). A population-based analysis.

Belinchón-Romero I, Ramos-Rincón JM

Frontiers in pediatrics 2025; (13()):1675978 doi:10.3389/fped.2025.1675978.

An interpretable machine learning model with SHAP explanations predicts spontaneous bleeding in pediatric acute liver failure.

Xiong Q, Wang R, Yang C, Zhang M

Frontiers in medicine 2026; (13()):1727411 doi:10.3389/fmed.2026.1727411.

Nutrition support of children with chronic liver disease: A rapid review and consensus statements from Australasian society of parenteral and enteral nutrition (AuSPEN) Paediatric liver group.

Burgess D, Collins T, Landorf E, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2026; (58(7)):862-870 doi:10.1016/j.dld.2026.05.006.