Research & Literature

Evaluation of oxidative events and copper accumulatıon in oral tissues of patients wıth Wilson's disease: three case report.

Ozturk M, Karacelebi E, Gungor K, et al.

International journal of clinical and experimental pathology 2015; (8(4)):3943-5.

Wilson disease: Health-related quality of life and risk for depression.

Schaefer M, Gotthardt DN, Ganion N, et al.

Clinics and research in hepatology and gastroenterology 2016; (40(3)):349-356 doi:10.1016/j.clinre.2015.09.007.

Accuracy and Usefulness of Select Methods for Assessing Complete Collection of 24-Hour Urine: A Systematic Review.

John KA, Cogswell ME, Campbell NR, et al.

Journal of clinical hypertension (Greenwich, Conn.) 2016; (18(5)):456-67 doi:10.1111/jch.12763.

[Wilson's disease - a case report].

Karwowska K, Skrzypek J, Chabik G, et al.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2016; (40(235)):28-31.

Hepatic Manifestations in Wilson's Disease: Report of 110 Cases.

Lin L, Wang D, Ding N, Zheng C

Hepato-gastroenterology 2015; (62(139)):657-60.

[Copper metabolism and genetic disorders].

Shimizu N

Nihon rinsho. Japanese journal of clinical medicine 2016; (74(7)):1151-5.

Clinical presentations of Wilson disease among Polish children.

Naorniakowska M, Dądalski M, Kamińska D, et al.

Developmental period medicine 2016; (20(3)):216-221.

Anterior segment optical coherence tomography to look for Kayser-Fleischer rings.

Sridhar MS, Pineda R

Practical neurology 2017; (17(3)):222-223 doi:10.1136/practneurol-2017-001605.

Wilson disease: neurologic features.

Członkowska A, Litwin T, Chabik G

Handbook of clinical neurology 2017; (142()):101-119 doi:10.1016/B978-0-444-63625-6.00010-0.

Diagnosis of Wilson disease.

Ferenci P

Handbook of clinical neurology 2017; (142()):171-180 doi:10.1016/B978-0-444-63625-6.00014-8.

Wilson disease - currently used anticopper therapy.

Członkowska A, Litwin T

Handbook of clinical neurology 2017; (142()):181-191 doi:10.1016/B978-0-444-63625-6.00015-X.

A 6-year-old boy with Wilson disease-A diagnostic dilemma.

Ganesh R, Suresh N, Vasanthi T, et al.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2017; (36(2)):149-154 doi:10.1007/s12664-017-0746-4.

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Zarina A, Tolmane I, Kreile M, et al.

Molecular genetics & genomic medicine 2017; (5(4)):405-409 doi:10.1002/mgg3.297.

Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.

Socha P, Janczyk W, Dhawan A, et al.

Journal of pediatric gastroenterology and nutrition 2018; (66(2)):334-344 doi:10.1097/MPG.0000000000001787.

Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.

Li H, Liu L, Li Y, et al.

Medicine 2018; (97(27)):e11405 doi:10.1097/MD.0000000000011405.

The global prevalence of Wilson disease from next-generation sequencing data.

Gao J, Brackley S, Mann JP

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(5)):1155-1163 doi:10.1038/s41436-018-0309-9.

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.

Schmidt K, Ralle M, Schaffer T, et al.

The Journal of biological chemistry 2018; (293(52)):20085-20098 doi:10.1074/jbc.RA118.004889.

Update on the Diagnosis and Management of Wilson Disease.

Roberts EA

Current gastroenterology reports 2018; (20(12)):56 doi:10.1007/s11894-018-0660-7.

Wilson's Disease: A Review for the General Pediatrician.

Capone K, Azzam RK

Pediatric annals 2018; (47(11)):e440-e444 doi:10.3928/19382359-20181026-01.

Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.

Khan HN, Wasim M, Ayesha H, Awan FR

Molecular biology reports 2018; (45(6)):2585-2591 doi:10.1007/s11033-018-4426-y.

[Wilson's disease or hepatolenticular degeneration].

Mensing B, Nowak A, Zweifel S, et al.

Therapeutische Umschau. Revue therapeutique 2018; (75(4)):241-248 doi:10.1024/0040-5930/a000995.

Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease.

Broniek-Kowalik K, Dzieżyc K, Litwin T, et al.

Acta ophthalmologica 2019; (97(5)):e757-e760 doi:10.1111/aos.14009.

Acute-Onset Optic Neuropathy in Wilson's Disease.

Chou LT, Horkey D, Slabaugh M

Case reports in ophthalmology 2018; (9(3)):520-525 doi:10.1159/000495744.

[Present status of diagnosis and treatment of hepatolenticular degeneration].

Yi LP, Zhang W, Wu Z, et al.

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2019; (27(3)):161-165 doi:10.3760/cma.j.issn.1007-3418.2019.03.001.

The dilemma to diagnose Wilson disease by genetic testing alone.

Stättermayer AF, Entenmann A, Gschwantler M, et al.

European journal of clinical investigation 2019; (49(8)):e13147 doi:10.1111/eci.13147.

Population screening and diagnostic strategies in screening family members of Wilson's disease patients.

Li H, Tao R, Liu L, Shang S

Annals of translational medicine 2019; (7(Suppl 2)):S59 doi:10.21037/atm.2019.03.54.

Clinical features of Wilson disease.

Stremmel W, Merle U, Weiskirchen R

Annals of translational medicine 2019; (7(Suppl 2)):S61 doi:10.21037/atm.2019.01.20.

Neurologic impairment in Wilson disease.

Dusek P, Litwin T, Członkowska A

Annals of translational medicine 2019; (7(Suppl 2)):S64 doi:10.21037/atm.2019.02.43.

Clinical practice guidelines in Wilson disease.

Saroli Palumbo C, Schilsky ML

Annals of translational medicine 2019; (7(Suppl 2)):S65 doi:10.21037/atm.2018.12.53.

Clinical management of Wilson disease.

Hedera P

Annals of translational medicine 2019; (7(Suppl 2)):S66 doi:10.21037/atm.2019.03.18.

Wilson disease-treatment perspectives.

Litwin T, Dzieżyc K, Członkowska A

Annals of translational medicine 2019; (7(Suppl 2)):S68 doi:10.21037/atm.2018.12.09.

New tools for Wilson's disease diagnosis: exchangeable copper fraction.

Woimant F, Djebrani-Oussedik N, Poujois A

Annals of translational medicine 2019; (7(Suppl 2)):S70 doi:10.21037/atm.2019.03.02.

Mechanism and intervention measures of iron side effects on the intestine.

Qi X, Zhang Y, Guo H, et al.

Critical reviews in food science and nutrition 2020; (60(12)):2113-2125 doi:10.1080/10408398.2019.1630599.

Scheimpflug Imaging of the Danish Cohort of Patients With Wilson Disease.

Telinius N, Ott P, Sandahl T, Hjortdal J

Cornea 2019; (38(8)):998-1002 doi:10.1097/ICO.0000000000001959.

A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease.

Cleymaet S, Nagayoshi K, Gettings E, Faden J

Expert review of neurotherapeutics 2019; (19(11)):1117-1126 doi:10.1080/14737175.2019.1645009.

Wilson disease developing osteoarthritic pain in severe acute liver failure: A case report.

Kido J, Matsumoto S, Sugawara K, Nakamura K

World journal of hepatology 2019; (11(7)):607-612 doi:10.4254/wjh.v11.i7.607.

Wilson disease and psychiatric symptoms: A brief case report.

Guerrero-Jiménez M, Carrillo de Albornoz Calahorro CM, Gutierrez Rojas L

General psychiatry 2019; (32(3)):e100066 doi:10.1136/gpsych-2019-100066.

Biomarkers for diagnosis of Wilson's disease.

Ryan A, Nevitt SJ, Tuohy O, Cook P

The Cochrane database of systematic reviews 2019; (2019(11)) doi:10.1002/14651858.CD012267.pub2.

Wilson disease in children and adolescents.

Fernando M, van Mourik I, Wassmer E, Kelly D

Archives of disease in childhood 2020; (105(5)):499-505 doi:10.1136/archdischild-2018-315705.

[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].

Jia SY, Zhou DH, Ou XJ, Huang J

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2020; (28(2)):188-192 doi:10.3760/cma.j.issn.1007-3418.2020.02.019.

ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.

Hashmi MA, Zubaida B, Asghar RM, Lodhi MA

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2020; (30(4)):433-434 doi:10.29271/jcpsp.2020.04.433.

Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson's Disease.

Fanni D, Gerosa C, Nurchi VM, et al.

Current medicinal chemistry 2021; (28(14)):2707-2716 doi:10.2174/0929867327666200730214757.

Wilson's Disease: Diagnosis of Wilson's Disease in Ethiopian Young Sisters.

Bekele N, Ewnetu F, Hailu T, et al.

Case reports in medicine 2020; (2020()):7650170 doi:10.1155/2020/7650170.

Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation.

Proost R, Cassiman D, Levtchenko E, et al.

Journal of pediatric gastroenterology and nutrition 2020; (71(6)):720-725 doi:10.1097/MPG.0000000000002894.

Reverse regulation of hepatic ceruloplasmin production in rat model of myocardial ischemia.

Yang D, Wang T, Liu J, et al.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) 2021; (64()):126686 doi:10.1016/j.jtemb.2020.126686.

A New Onset of Mania in a 49-Year-Old Man: An Interesting Case of Wilson Disease.

Sloan S, Dosumu-Johnson RT

Journal of psychiatric practice 2020; (26(6)):510-517 doi:10.1097/PRA.0000000000000505.

Commentary on "A New Onset of Mania in a 49-Year-Old Man: An Interesting Case of Wilson Disease".

Garakani A

Journal of psychiatric practice 2020; (26(6)):510-517 doi:10.1097/PRA.0000000000000507.

False elevations in urinary metanephrines: under-recognised pitfall with 24-hour urinary volume collection.

Shin T, Hoang TD, Plunkett MT, Shakir MKM

BMJ case reports 2021; (14(2)) doi:10.1136/bcr-2020-241147.

Alternative Etiologies of Liver Disease in Children With Suspected NAFLD.

Yodoshi T, Orkin S, Arce-Clachar AC, et al.

Pediatrics 2021; (147(4)) doi:10.1542/peds.2020-009829.

Diagnostic Dilemma and Treatment Outcome in Acute Liver Failure Due to Wilson's Disease.

Stankiewicz R, Patkowski W, Zieniewicz K

Annals of transplantation 2021; (26()):e930146 doi:10.12659/AOT.930146.

The Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease.

Camarata MA, Ala A, Coskun AK, et al.

Journal of the Academy of Consultation-Liaison Psychiatry 2021; (62(5)):528-537 doi:10.1016/j.jaclp.2021.04.004.

Quercetin attenuates neurotoxicity induced by iron oxide nanoparticles.

Bardestani A, Ebrahimpour S, Esmaeili A, Esmaeili A

Journal of nanobiotechnology 2021; (19(1)):327 doi:10.1186/s12951-021-01059-0.

Blink reflex in newly diagnosed and treated patients with Wilson's disease.

Bembenek JP, Kiryluk K, Inglot E, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(12)):1873-1880 doi:10.1007/s00702-021-02432-x.

Chelation therapy in liver diseases of childhood: Current status and response.

Seetharaman J, Sarma MS

World journal of hepatology 2021; (13(11)):1552-1567 doi:10.4254/wjh.v13.i11.1552.

Catatonia: A rare presentation of Wilson's disease.

Davis S, Chag J, Rohatgi S, et al.

Industrial psychiatry journal 2021; (30(Suppl 1)):S325-S327 doi:10.4103/0972-6748.328843.

Efficacy of Different Diagnostic Test for Identifying Wilson's Disease.

Sonia ZF, Rukunuzzaman M, Karim MB, et al.

Mymensingh medical journal : MMJ 2022; (31(1)):117-123.

Adverse Events with D-penicillamine Therapy in Hepatic Wilson's Disease: A Single-Center Retrospective Audit.

Kumar S, Patra BR, Irtaza M, et al.

Clinical drug investigation 2022; (42(2)):177-184 doi:10.1007/s40261-022-01117-x.

Wilson's Disease Update: An Indian Perspective.

Bhattacharya K, Thankappan B

Annals of Indian Academy of Neurology 2022; (25(1)):43-53 doi:10.4103/aian.aian_1070_21.

A rare giant intracranial arachnoid cyst confused the diagnosis and treatment of Wilson disease.

Wenbin Z, Yeqing H, Aiqun L, et al.

Translational neuroscience 2022; (13(1)):52-56 doi:10.1515/tnsci-2022-0213.

Fading Kayser-Fleischer ring revisited.

Sethi M, Madan S, Beri S

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2021; (35(2)):146-148 doi:10.4103/1319-4534.337854.

Hepatic ultrastructural features distinguish paediatric Wilson disease from NAFLD and autoimmune hepatitis.

Alqahtani SA, Chami R, Abuquteish D, et al.

Liver international : official journal of the International Association for the Study of the Liver 2022; (42(11)):2482-2491 doi:10.1111/liv.15319.

Low Copper Diet-A Therapeutic Option for Wilson Disease?

Teufel-Schäfer U, Forster C, Schaefer N

Children (Basel, Switzerland) 2022; (9(8)) doi:10.3390/children9081132.

Management of Children and Adolescents with Wilson Disease and Neurological Worsening Following D-Penicillamine Therapy: A Single Centre Experience.

Kumar M, Murugan TP, Lionel AP, et al.

Annals of Indian Academy of Neurology 2022; (25(4)):698-702 doi:10.4103/aian.aian_519_21.

A Case of Megaspleen With Micrographism.

Bansal S, Tandi R, Sahu S, et al.

Cureus 2022; (14(9)):e29270 doi:10.7759/cureus.29270.

Wilson's disease: Food therapy out of trace elements.

Li WJ, Chen HL, Wang B, et al.

Frontiers in cell and developmental biology 2022; (10()):1091580 doi:10.3389/fcell.2022.1091580.

Wilson disease in pregnancy: A case series.

Xiong X, Wei H, Zhu Y, et al.

Medicine 2023; (102(7)):e32968 doi:10.1097/MD.0000000000032968.

[An introduction to multidisciplinary recommendations for Wilson's disease comprehensive diagnosis and management: 2022 practice guidance from the American Association for the Study of Liver Diseases].

Hou W, Zheng SJ, Duan ZP

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2022; (30(11)):1151-1153 doi:10.3760/cma.j.cn501113-20221102-00535.

Generalized Dystonia as Presenting Feature of Wilson Disease: A Case Report.

Anushree A, Kumar S, Bhattacharya P, et al.

Global pediatric health 2023; (10()):2333794X231163418 doi:10.1177/2333794X231163418.

Structures of the human Wilson disease copper transporter ATP7B.

Yang GM, Xu L, Wang RM, et al.

Cell reports 2023; (42(5)):112417 doi:10.1016/j.celrep.2023.112417.

eGFP as an All-in-One Tag for Purification of Membrane Proteins.

Heger T, Stock C, Laursen MJ, et al.

Methods in molecular biology (Clifton, N.J.) 2023; (2652()):171-186 doi:10.1007/978-1-0716-3147-8_9.

Neurological worsening in Wilson disease - clinical classification and outcome.

Mohr I, Pfeiffenberger J, Eker E, et al.

Journal of hepatology 2023; (79(2)):321-328 doi:10.1016/j.jhep.2023.04.007.

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.

Stalke A, Behrendt A, Hennig F, et al.

Clinical genetics 2023; (104(2)):174-185 doi:10.1111/cge.14352.

[Application of a low copper diet guidance based on food exchange portions in children with hepatolenticular degeneration].

Chen YX, Qiu ZQ, Sun J, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(6)):612-618 doi:10.7499/j.issn.1008-8830.2212034.

Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism.

Dunkerton S, Clarke AJ, Thompson EO, et al.

The American journal of case reports 2023; (24()):e940561 doi:10.12659/AJCR.940561.

A Challenging Case of Wilson's Disease.

João Soares R, Monteiro N, Machado J, et al.

Cureus 2023; (15(7)):e42655 doi:10.7759/cureus.42655.

Bilateral optic atrophy in Wilson disease: A case report and literature review.

Chen F, Chen C, Zhang Y, et al.

Clinics and research in hepatology and gastroenterology 2024; (48(3)):102299 doi:10.1016/j.clinre.2024.102299.

Kayser-Fleischer rings: The pathognomonic for Wilson's disease.

Singh P, Subedi B, Mahato D, Karn M

Clinical case reports 2024; (12(3)):e8642 doi:10.1002/ccr3.8642.

Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.

Teschke R, Eickhoff A

International journal of molecular sciences 2024; (25(9)) doi:10.3390/ijms25094753.

Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients.

Lee EJ, Woo MH, Moon JS, Ko JS

Orphanet journal of rare diseases 2024; (19(1)):261 doi:10.1186/s13023-024-03271-1.

A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report.

Zhou Z, Zhang S, Bi Y, et al.

Medicine 2024; (103(31)):e38849 doi:10.1097/MD.0000000000038849.

Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.

Alonso-Castellano P, Tugores A, Mariño Z, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2025; (57(2)):443-449 doi:10.1016/j.dld.2024.09.002.

Usefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.

Basan NM, Sheikh Hassan M, Gökhan Z, et al.

International medical case reports journal 2024; (17()):819-822 doi:10.2147/IMCRJ.S491888.

[Progress in drug therapy of Wilson's disease].

Zhang W, Zhao XY, Huang J, et al.

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2024; (32(9)):783-786 doi:10.3760/cma.j.cn501113-20240714-00324.

Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.

Isa HM, Alahmed FA, Busehail MY, et al.

Cureus 2024; (16(10)):e71805 doi:10.7759/cureus.71805.

Acute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy.

Moosavian T, Pournasiri Z, Fatollahierad S

Iranian journal of child neurology 2025; (19(1)):107-112 doi:10.22037/ijcn.v19i1.45350.

Unmasking Wilson Disease: A Rare Paediatric Case of Haemolysis and Hepatic Dysfunction Without Neurological Features.

Al Zohbi R, Awaida I, Farhat S, Ghandour F

Cureus 2025; (17(1)):e77726 doi:10.7759/cureus.77726.

Characterization of nerve biopsy in copper deficiency peripheral neuropathy due to over-treatment of Wilson's disease: A case report.

Peng C, Li W, Jiang H, et al.

Acta neurologica Belgica 2025; (125(2)):579-582 doi:10.1007/s13760-025-02762-7.

EASL-ERN Clinical Practice Guidelines on Wilson's disease.

Journal of hepatology 2025; doi:10.1016/j.jhep.2024.11.007.

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.

Calinas F, Cardoso H, Carvalhana S, et al.

GE Portuguese journal of gastroenterology 2025; (32(2)):78-94 doi:10.1159/000541208.

Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration.

Yang RM, Feng T, Cai W, et al.

Current neuropharmacology 2025; (23(13)):1683-1708 doi:10.2174/011570159X349587250311072553.

Latest innovations in the treatment of Wilson's disease.

Zheng ZW, Dong Y, Wu ZY

iLIVER 2022; (1(3)):181-186 doi:10.1016/j.iliver.2022.09.002.

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N, Desjardins C, Obadia MA, et al.

JHEP reports : innovation in hepatology 2025; (7(10)):101537 doi:10.1016/j.jhepr.2025.101537.

[Recommendations from the European Association for the Study of the Liver and the European Reference Network for Rare Liver Diseases Clinical Practice Guidelines for hepatolenticular degeneration].

Tang S, Hou W, Zheng SJ

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2025; (33(10)):988-992 doi:10.3760/cma.j.cn501113-20250408-00130.

Social Support, Self-Management Behaviors, and Coping Styles of Patients With Wilson's Disease: A Quantitative Empirical Research.

Zhan T, Li X, Wang Y, et al.

Brain and behavior 2025; (15(12)):e71138 doi:10.1002/brb3.71138.