1Kasztelan-SzczerbinskaB, Cichoz-LachH. Wilson’s Disease: An Update on the Diagnostic Workup and Management. J Clin Med [Internet]. 2021 [cited 2024 May 24];10. Available from: https://pubmed.ncbi.nlm.nih.gov/34768617/. DOI: 10.3390/jcm10215097
2AlkhouriN, Gonzalez-PeraltaRP, MediciV. Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatol Commun [Internet]. 2023 [cited 2025 Feb 2];7. Available from: https://pubmed.ncbi.nlm.nih.gov/37184530/. DOI: 10.1097/HC9.0000000000000150
4JangES, ChoiHY, KiM, KimBH, KimK-A, JeongS-H. Prevalence, Incidence, and Treatment Pattern of Wilson’s Disease Using National Health Insurance Data From 2010–2020, Korea. J Korean Med Sci. 2024;39. DOI: 10.3346/jkms.2024.39.e115
5AbbassiN, BourrahouatA, BedoyaEC, PaganC, QabliM El, MaidoumiS, et al. Phenotype and molecular characterization of Wilson’s disease in Morocco. Clin Res Hepatol Gastroenterol. 2024;48:102335. DOI: 10.1016/j.clinre.2024.102335
6PoujoisA, WoimantF. Challenges in the diagnosis of Wilson disease. Ann Transl Med [Internet]. 2019 [cited 2024 May 24];7:S67–S67. Available from: https://pubmed.ncbi.nlm.nih.gov/31179304/. DOI: 10.21037/atm.2019.02.10
7AbbassiN, BourrahouatA, BedoyaEC, PaganC, QabliM El, MaidoumiS, et al. Phenotype and molecular characterization of Wilson’s disease in Morocco. Clin Res Hepatol Gastroenterol [Internet]. 2024 [cited 2025 Feb 2];48. Available from: https://pubmed.ncbi.nlm.nih.gov/38588792/. DOI: 10.1016/j.clinre.2024.102335
8WilsonSAK. Progressive Lenticular Degeneration: A Familial Nervous Disease Associated With Cirrhosis Of The Liver. Brain [Internet]. 1912 [cited 2024 May 24];34:295–507. DOI: 10.1093/brain/34.4.295
10WiernickaA, DadalskiM, JańczykW, KamińskaD, NaorniakowskaM, Hüsing-KabarA, et al. Early Onset of Wilson Disease: Diagnostic Challenges. J Pediatr Gastroenterol Nutr [Internet]. 2017 [cited 2025 Feb 2];65:555–60. Available from: https://pubmed.ncbi.nlm.nih.gov/28753182/. DOI: 10.1097/MPG.0000000000001700
11TalyAB, Meenakshi-SundaramS, SinhaS, SwamyHS, ArunodayaGR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine [Internet]. 2007 [cited 2025 Feb 2];86:112–21. Available from: https://pubmed.ncbi.nlm.nih.gov/17435591/. DOI: 10.1097/MD.0b013e318045a00e
12SinghN, KallollimathP, ShahMH, KapoorS, BhatVK, ViswanathanLG, et al. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. PLoS One [Internet]. 2019 [cited 2025 Feb 2];14. Available from: https://pubmed.ncbi.nlm.nih.gov/31059521/. DOI: 10.1371/journal.pone.0215779
14TalyAB, Meenakshi-SundaramS, SinhaS, SwamyHS, ArunodayaGR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine [Internet]. 2007 [cited 2024 May 24];86:112–21. Available from: https://pubmed.ncbi.nlm.nih.gov/17435591/. DOI: 10.1097/MD.0b013e318045a00e
15JungKH, AhnTB, JeonBS. Wilson disease with an initial manifestation of polyneuropathy. Arch Neurol [Internet]. 2005 [cited 2024 May 24];62:1628–31. Available from: https://pubmed.ncbi.nlm.nih.gov/16216950/. DOI: 10.1001/archneur.62.10.1628
16FerenciP. Phenotype-genotype correlations in patients with Wilson’s disease. Ann N Y Acad Sci [Internet]. 2014 [cited 2024 May 24];1315:1–5. Available from: https://pubmed.ncbi.nlm.nih.gov/24517292/. DOI: 10.1111/nyas.12340
17SinghN, KallollimathP, ShahMH, KapoorS, BhatVK, ViswanathanLG, et al. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. PLoS One [Internet]. 2019 [cited 2024 May 24];14:e0215779. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215779. DOI: 10.1371/journal.pone.0215779
18LeinweberB, MöllerJC, ScheragA, ReunerU, GüntherP, LangCJG, et al. Evaluation of the Unified Wilson’s Disease Rating Scale (UWDRS) in German patients with treated Wilson’s disease. Mov Disord [Internet]. 2008 [cited 2024 May 24];23:54–62. Available from: https://pubmed.ncbi.nlm.nih.gov/17960799/. DOI: 10.1002/mds.21761
19AggarwalA, AggarwalN, NagralA, JankhariaG, BhattM. A novel global assessment scale for Wilson’s disease (GAS for WD). Movement Disorders. 2009;24:509–18. DOI: 10.1002/mds.22231
20MohrI, WeissKH. Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease. Clin Biochem Rev [Internet]. 2019 [cited 2024 May 24];40:59–77. Available from: https://pubmed.ncbi.nlm.nih.gov/31205375/. DOI: 10.33176/AACB-18-00014
21MakCM, LamCW, TamS. Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Clin Chem [Internet]. 2008 [cited 2024 May 24];54:1356–62. Available from: https://pubmed.ncbi.nlm.nih.gov/18556333/. DOI: 10.1373/clinchem.2008.103432
23StremmelW, MeyerroseKW, NiederauC, HefterH, KreuzpaintnerG, StrohmeyerG. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med [Internet]. 1991 [cited 2024 May 24];115:720–6. Available from: https://pubmed.ncbi.nlm.nih.gov/1929042/. DOI: 10.7326/0003-4819-115-9-720
26MerleU, SchaeferM, FerenciP, StremmelW. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut [Internet]. 2007 [cited 2024 May 24];56:115–20. Available from: https://pubmed.ncbi.nlm.nih.gov/16709660/. DOI: 10.1136/gut.2005.087262
27FerenciP, CacaK, LoudianosG, Mieli-VerganiG, TannerS, SternliebI, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int [Internet]. 2003 [cited 2024 May 24];23:139–42. Available from: https://pubmed.ncbi.nlm.nih.gov/12955875/. DOI: 10.1034/j.1600-0676.2003.00824.x
28DzieżycK, LitwinT, ChabikG, CzłonkowskaA. Measurement of urinary copper excretion after 48-h d-penicillamine cessation as a compliance assessment in Wilson’s disease. Funct Neurol [Internet]. 2015 [cited 2025 Feb 2];30:264–8. Available from: https://pubmed.ncbi.nlm.nih.gov/26727705/. DOI: 10.11138/FNeur/2015.30.4.264
29BoaruSG, MerleU, UerlingsR, ZimmermannA, FlechtenmacherC, WillheimC, et al. Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson’s disease. J Cell Mol Med [Internet]. 2015 [cited 2024 May 24];19:806. Available from: /pmc/articles/PMC4395195/. DOI: 10.1111/jcmm.12497
30MahaleRR, StezinA, PrasadS, KambleN, HollaVV., NetravathiM, et al. Clinical Spectrum, Radiological Correlation and Outcome of Movement Disorders in Wilson’s Disease. Tremor Other Hyperkinet Mov (N Y) [Internet]. 2023 [cited 2024 May 24];13. Available from: https://pubmed.ncbi.nlm.nih.gov/37840995/. DOI: 10.5334/tohm.794
32SinhaS, TalyAB, PrashanthLK, RavishankarS, ArunodayaGR, VasudevMK. Sequential MRI changes in Wilson’s disease with de-coppering therapy: a study of 50 patients. Br J Radiol [Internet]. 2007 [cited 2025 Feb 2];80:744–9. Available from: https://pubmed.ncbi.nlm.nih.gov/17709362/. DOI: 10.1259/bjr/48911350
34FerenciP. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing. Hum Genet. 2006;120:151–9. DOI: 10.1007/s00439-006-0202-5
35AggarwalA, ChandhokG, TodorovT, ParekhS, TilveS, ZibertA, et al. Wilson disease mutation pattern with genotype-phenotype correlations from Western India: Confirmation of p.C271* as a common indian mutation and identification of 14 novel mutations. Ann Hum Genet. 2013;77:299–307. DOI: 10.1111/ahg.12024
36CoffeyAJ, DurkieM, HagueS, McLayK, EmmersonJ, LoC, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013;136:1476–87. DOI: 10.1093/brain/awt035
38BennettJT, SchwarzKB, SwansonPD, HahnSH. An exceptional family with three consecutive generations affected by Wilson disease. JIMD Rep [Internet]. 2013 [cited 2024 May 24];10:79–82. Available from: https://pubmed.ncbi.nlm.nih.gov/23430806/. DOI: 10.1007/8904_2012_206
40OvchinnikovaEV, GarbuzMM, OvchinnikovaAA, KumeikoVV. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions. Int J Mol Sci [Internet]. 2024 [cited 2024 Jul 5];25. Available from: /pmc/articles/PMC10889319/. DOI: 10.3390/ijms25042402
42FerenciP. Phenotype-genotype correlations in patients with Wilson’s disease. Ann N Y Acad Sci [Internet]. 2014 [cited 2025 Feb 3];1315:1–5. Available from: https://pubmed.ncbi.nlm.nih.gov/24517292/. DOI: 10.1111/nyas.12340
43ShahAB, ChernovI, ZhangHT, RossBM, DasK, LutsenkoS, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet [Internet]. 1997 [cited 2025 Feb 3];61:317–28. Available from: https://pubmed.ncbi.nlm.nih.gov/9311736/. DOI: 10.1086/514864
44ChangIJ, HahnSH. The genetics of Wilson disease. Handb Clin Neurol [Internet]. 2017 [cited 2025 Feb 3];142:19–34. Available from: https://pubmed.ncbi.nlm.nih.gov/28433102/. DOI: 10.1016/B978-0-444-63625-6.00003-3
45ShahAB, ChernovI, ZhangHT, RossBM, DasK, LutsenkoS, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet [Internet]. 1997 [cited 2024 May 24];61:317. Available from: /pmc/articles/PMC1715895/?report=abstract. DOI: 10.1086/514864
46SinghN, KallollimathP, ShahMH, KapoorS, BhatVK, ViswanathanLG, et al. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. PLoS One [Internet]. 2019 [cited 2024 May 24];14:e0215779. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215779. DOI: 10.1371/journal.pone.0215779
47XueZ, ChenH, YuL, JiangP. A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China. Pediatr Neurol [Internet]. 2023 [cited 2024 Jul 5];145:135–47. Available from: https://pubmed.ncbi.nlm.nih.gov/37354629/. DOI: 10.1016/j.pediatrneurol.2023.04.026
48NagralA, SarmaMS, MatthaiJ, KukklePL, DevarbhaviH, SinhaS, et al. Wilson’s Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. J Clin Exp Hepatol [Internet]. 2019 [cited 2024 May 24];9:74–98. Available from: https://pubmed.ncbi.nlm.nih.gov/30765941/. DOI: 10.1016/j.jceh.2018.08.009
49AntosA, LitwinT, SkowronskaM, Kurkowska-JastrzebskaI, CzlonkowskaA. Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene. Neurol Neurochir Pol [Internet]. 2020 [cited 2024 May 24];54:478–80. Available from: https://pubmed.ncbi.nlm.nih.gov/32808274/. DOI: 10.5603/PJNNS.a2020.0063
50RobertsEA, SchilskyML. Diagnosis and treatment of Wilson disease: an update. Hepatology [Internet]. 2008 [cited 2024 May 24];47:2089–111. Available from: https://pubmed.ncbi.nlm.nih.gov/18506894/. DOI: 10.1002/hep.22261
53ChenbhanichJ, ThongprayoonC, AtsawarungruangkitA, PhupitakpholT, CheungpasitpornW. Osteoporosis and bone mineral density in patients with Wilson’s disease: a systematic review and meta-analysis. Osteoporosis International. 2018;29:315–22. DOI: 10.1007/s00198-017-4295-6
54Rodriguez-CastroKI, Hevia-UrrutiaFJ, SturnioloGC. Wilson’s disease: A review of what we have learned. World J Hepatol [Internet]. 2015 [cited 2024 May 24];7:2859–70. Available from: https://pubmed.ncbi.nlm.nih.gov/26692151/. DOI: 10.4254/wjh.v7.i29.2859
55CzłonkowskaA, RodoM, Wierzchowska-CiokA, SmolinskiL, LitwinT. Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. Liver Int [Internet]. 2018 [cited 2024 May 24];38:1860–6. Available from: https://pubmed.ncbi.nlm.nih.gov/29418065/. DOI: 10.1111/liv.13715
57FerenciP, Steindl-MundaP, VogelW, JessnerW, GschwantlerM, StauberR, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s Disease. Clin Gastroenterol Hepatol [Internet]. 2005 [cited 2024 May 24];3:811–8. Available from: https://pubmed.ncbi.nlm.nih.gov/16234011/. DOI: 10.1016/S1542-3565(05)00181-3
58GowPJ, SmallwoodRA, AngusPW, SmithAL, WallAJ, SewellRB. Diagnosis of Wilson’s disease: An experience over three decades. Gut. 2000;46:415–9. DOI: 10.1136/gut.46.3.415
59GaroufaliaZ, ProdromidouA, MachairasN, KostakisID, StamopoulosP, ZavrasN, et al. Liver Transplantation for Wilson’s Disease in Non-adult Patients: A Systematic Review. Transplant Proc. 2019;51:443–5. DOI: 10.1016/j.transproceed.2019.01.017
63WalsheJM. The story of penicillamine: a difficult birth. Mov Disord [Internet]. 2003 [cited 2024 May 24];18:853–9. Available from: https://pubmed.ncbi.nlm.nih.gov/12889074/. DOI: 10.1002/mds.10458
64BeinhardtS, LeissW, StättermayerAF, GraziadeiI, ZollerH, StauberR, et al. Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol [Internet]. 2014 [cited 2024 May 24];12:683–9. Available from: https://pubmed.ncbi.nlm.nih.gov/24076416/. DOI: 10.1016/j.cgh.2013.09.025
65DurandF, BernuauJ, GiostraE, MenthaG, ShouvalD, DegottC, et al. Wilson’s disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine. Gut [Internet]. 2001 [cited 2024 May 24];48:849–52. Available from: https://pubmed.ncbi.nlm.nih.gov/11358907/. DOI: 10.1136/gut.48.6.849
66CzłonkowskaA, LitwinT. Wilson disease – currently used anticopper therapy. Handb Clin Neurol [Internet]. 2017 [cited 2024 May 24];142:181–91. Available from: https://www.researchgate.net/publication/316329791_Wilson_disease_-_currently_used_anticopper_therapy. DOI: 10.1016/B978-0-444-63625-6.00015-X
67RobertsEA, SochaP. Wilson disease in children. Handb Clin Neurol [Internet]. 2017 [cited 2024 May 24];142:141–56. Available from: https://pubmed.ncbi.nlm.nih.gov/28433098/. DOI: 10.1016/B978-0-444-63625-6.00012-4
69AntosA, CzłonkowskaA, SmolinskiL, BembenekJ, PrzybyłkowskiA, SkowrońskaM, et al. Early neurological deterioration in Wilson’s disease: a systematic literature review and meta-analysis. Neurological Sciences. 2023;44:3443–55. DOI: 10.1007/s10072-023-06895-6
70SchilskyML, RobertsEA, BronsteinJM, DhawanA, HamiltonJP, RivardAM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology [Internet]. 2022 [cited 2025 Feb 2]; Available from: https://pubmed.ncbi.nlm.nih.gov/36151586/. DOI: 10.1002/hep.32801
71PingCC, HassanY, AzizNA, GhazaliR, AwaisuA. Discontinuation of penicillamine in the absence of alternative orphan drugs (trientine-zinc): a case of decompensated liver cirrhosis in Wilson’s disease. J Clin Pharm Ther [Internet]. 2007 [cited 2024 May 24];32:101–7. Available from: https://pubmed.ncbi.nlm.nih.gov/17286794/. DOI: 10.1111/j.1365-2710.2007.00794.x
72ScheinbergIH, JaffeME, SternliebI. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson’s disease. N Engl J Med [Internet]. 1987 [cited 2024 May 24];317:209–13. Available from: https://pubmed.ncbi.nlm.nih.gov/3600712/. DOI: 10.1056/NEJM198707233170405
73YarzeJC, MartinP, MuñozSJ, FriedmanLS. Wilson’s disease: current status. Am J Med [Internet]. 1992 [cited 2024 May 24];92:643–54. Available from: https://pubmed.ncbi.nlm.nih.gov/1605146/. DOI: 10.1016/0002-9343(92)90783-8
75PerryAR, PagliucaA, FitzsimonsEJ, MuftiGJ, WilliamsR. Acquired sideroblastic anaemia induced by a copper-chelating agent. Int J Hematol [Internet]. 1996 [cited 2024 May 24];64:69–72. Available from: https://pubmed.ncbi.nlm.nih.gov/8757970/
78BrewerGJ, AskariF, LorinczMT, CarlsonM, SchilskyM, KluinKJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate – IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol. 2006;63:521–7. DOI: 10.1001/archneur.63.4.521
79BrewerGJ. Zinc and tetrathiomolybdate for the treatment of Wilson’s disease and the potential efficacy of anticopper therapy in a wide variety of diseases. Metallomics. 2009;1:199–206. DOI: 10.1039/b901614g
81PalPK, SinhaS, PillaiS, TalyAB, AbrahamRG. Successful treatment of tremor in Wilson’s disease by thalamotomy: A case report. Mov Disord [Internet]. 2007 [cited 2024 May 24];22:2287–90. Available from: https://pubmed.ncbi.nlm.nih.gov/17914724/. DOI: 10.1002/mds.21750
82HölscherS, LeinweberB, HefterH, ReunerU, GüntherP, WeissKH, et al. Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease. Eur Neurol [Internet]. 2010 [cited 2024 May 24];64:83–7. Available from: https://pubmed.ncbi.nlm.nih.gov/20606453/. DOI: 10.1159/000316066
83HefterH, SamadzadehS. Effective Treatment of Neurological Symptoms with Normal Doses of Botulinum Neurotoxin in Wilson’s Disease: Six Cases and Literature Review. Toxins (Basel) [Internet]. 2021 [cited 2024 May 24];13. Available from: https://pubmed.ncbi.nlm.nih.gov/33805281/. DOI: 10.3390/toxins13040241
85HederaP. Treatment of Wilson’s disease motor complications with deep brain stimulation. Ann N Y Acad Sci [Internet]. 2014 [cited 2024 May 24];1315:16–23. Available from: https://pubmed.ncbi.nlm.nih.gov/24547944/. DOI: 10.1111/nyas.12372
86DharD, HollaVV, KambleN, YadavR, SrinivasD, PalPK. Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature. Tremor and Other Hyperkinetic Movements [Internet]. 2022 [cited 2024 May 24];12. Available from: /pmc/articles/PMC9231568/. DOI: 10.5334/tohm.693
87LeeSY, YangHE, YangHS, LeeSH, JeungHW, ParkYO. Neuromuscular Electrical Stimulation Therapy for Dysphagia Caused by Wilson’s Disease. Ann Rehabil Med [Internet]. 2012 [cited 2024 May 24];36:409. Available from: /pmc/articles/PMC3400883/. DOI: 10.5535/arm.2012.36.3.409
88Rodriguez-CastroKI, Hevia-UrrutiaFJ, SturnioloGC. Wilson’s disease: A review of what we have learned. World J Hepatol [Internet]. 2015 [cited 2024 May 24];7:2859–70. Available from: https://pubmed.ncbi.nlm.nih.gov/26692151/. DOI: 10.4254/wjh.v7.i29.2859
89MahaleRR, StezinA, PrasadS, KambleN, HollaVV, NetravathiM, et al. Clinical Spectrum, Radiological Correlation and Outcome of Movement Disorders in Wilson’s Disease. Tremor Other Hyperkinet Mov (N Y) [Internet]. 2023 [cited 2025 Feb 2];13. Available from: https://pubmed.ncbi.nlm.nih.gov/37840995/. DOI: 10.5334/tohm.794
90KrishnanN, FeliceC, RiveraK, PappinDJ, TonksNK. DPM-1001 decreased copper levels and ameliorated deficits in a mouse model of Wilson’s disease. Genes Dev [Internet]. 2018 [cited 2025 Feb 3];32:944–52. Available from: https://pubmed.ncbi.nlm.nih.gov/29945887/. DOI: 10.1101/gad.314658.118
91LichtmanneggerJ, LeitzingerC, WimmerR, SchmittS, SchulzS, KabiriY, et al. Methanobactin reverses acute liver failure in a rat model of Wilson disease. J Clin Invest [Internet]. 2016 [cited 2025 Feb 3];126:2721–35. Available from: https://pubmed.ncbi.nlm.nih.gov/27322060/. DOI: 10.1172/JCI85226
92ParkSM, VoK, LallierM, CloutierAS, BrochuP, AlvarezF, et al. Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson’s disease. Cell Transplant [Internet]. 2006 [cited 2024 May 24];15:13–22. Available from: https://pubmed.ncbi.nlm.nih.gov/16700326/. DOI: 10.3727/000000006783982188
93XuWQ, WangRM, DongY, WuZY. Emerging neurological symptoms after liver transplantation: A 6-year follow-up of an adolescent patient with Wilson’s disease. CNS Neurosci Ther [Internet]. 2022 [cited 2025 Feb 2];28:788–91. Available from: https://pubmed.ncbi.nlm.nih.gov/34997703/. DOI: 10.1111/cns.13798
94NiW, DongQY, ZhangY, WuZY. Zinc monotherapy and a low-copper diet are beneficial in patients with Wilson disease after liver transplantation. CNS Neurosci Ther [Internet]. 2013 [cited 2025 Feb 2];19:905–7. Available from: https://pubmed.ncbi.nlm.nih.gov/24119323/. DOI: 10.1111/cns.12167
95LitwinT, BembenekJ, AntosA, PrzybyłkowskiA, SkowrońskaM, Kurkowska-JastrzębskaI, et al. Liver transplantation as a treatment for Wilson’s disease with neurological presentation: a systematic literature review. Acta Neurol Belg [Internet]. 2022 [cited 2025 Feb 2];122:505. Available from: https://pmc.ncbi.nlm.nih.gov/articles/PMC8986686/. DOI: 10.1007/s13760-022-01872-w
96LitwinT, BembenekJ, AntosA, PrzybyłkowskiA, SkowrońskaM, Kurkowska-JastrzębskaI, et al. Liver transplantation as a treatment for Wilson’s disease with neurological presentation: a systematic literature review. Acta Neurol Belg. 2022;122:505–18. DOI: 10.1007/s13760-022-01872-w
98IraniAN, MalhiH, SlehriaS, GorlaGR, VolenbergI, SchilskyML, et al. Correction of liver disease following transplantation of normal rat hepatocytes into Long-Evans Cinnamon rats modeling Wilson’s disease. Mol Ther [Internet]. 2001 [cited 2024 May 24];3:302–9. Available from: https://pubmed.ncbi.nlm.nih.gov/11273771/. DOI: 10.1006/mthe.2001.0271
99ConcilliM, IacobacciS, ChesiG, CarissimoA, PolishchukR. A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease. Metallomics [Internet]. 2016 [cited 2025 Feb 3];8:920–30. Available from: https://pubmed.ncbi.nlm.nih.gov/27714068/. DOI: 10.1039/C6MT00148C
101PadulaA, PetruzzelliR, PhilbertSA, ChurchSJ, EspositoF, CampioneS, et al. Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice. Mol Ther Methods Clin Dev [Internet]. 2022 [cited 2024 May 24];26:495–504. Available from: https://pubmed.ncbi.nlm.nih.gov/36092366/. DOI: 10.1016/j.omtm.2022.08.004
102WeiR, YangJ, ChengCW, HoWI, LiN, HuY, et al. CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson’s disease. JHEP Rep [Internet]. 2021 [cited 2024 May 24];4. Available from: https://pubmed.ncbi.nlm.nih.gov/34877514/. DOI: 10.1016/j.jhepr.2021.100389
104GöktaşMA, YalcinN. Adherence to medical treatment for Wilson’s disease in children and adolescents: a cohort study from Turkey. Orphanet J Rare Dis. 2024;19:105. DOI: 10.1186/s13023-024-03113-0
106KawaiK, AtarashiY, TakaharaT, KudoH, TajiriK, TokimitsuY, et al. Dietary supplement implicated in fulminant hepatic failure in a well-controlled Wilson disease patient. Clin J Gastroenterol [Internet]. 2009 [cited 2024 May 24];2:119–24. Available from: https://pubmed.ncbi.nlm.nih.gov/26192177/. DOI: 10.1007/s12328-008-0056-6