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Epidemiological study on a Wilson disease group of patients Cover

Epidemiological study on a Wilson disease group of patients

Open Access
|Sep 2025

References

  1. Poujois A, Woimant F, Samson S, Chaine P, Girardot-Tinant N, Tuppin P. Characteristics and prevalence of Wilson’s disease: A 2013 observational population-based study in France. Clin Res Hepatol Gastroenterol. 2018 Feb;42(1):57-63.
  2. Cocoş R, Şendroiu A, Schipor S, Bohîlţea LC, Şendroiu I, Raicu F. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson’s disease: genetic and clinical homogeneity. PLoS One. 2014; 4;9(6):e98520. Erratum in: PLoS One. 2014;9(7):e102619.
  3. Fei Wu, Jing Wang, Chunwen Pu, Liang Qiao, and Chunmeng Jiang. Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms. Int J Mol Sci. 2015; 16(3):6419–6431.
  4. Stremmel W, Weiskirchen R. Therapeutic strategies in Wilson disease: pathophysiology and mode of action. Ann Transl Med. 2021 Apr;9(8):732.
  5. Kasztelan-Szczerbinska B, Cichoz-Lach H. Wilson’s Disease: An Update on the Diagnostic Workup and Management. J Clin Med. 2021 Oct 30;10(21):5097.
  6. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson’s Disease: An Update. Hepatology. 2020 Feb;71(2):722-732.
  7. de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88.
  8. Lorente-Arencibia P, García-Villarreal L, González-Montelongo R, Rubio-Rodríguez LA, Flores C, Garay-Sánchez P, et al. Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency. J Pediatr Gastroenterol Nutr. 2022 Feb 1;74(2):192-199.
  9. Leung M, Aronowitz PB, Medici V. The Present and Future Challenges of Wilson’s Disease Diagnosis and Treatment. Clin Liver Dis (Hoboken). 2021 May 1;17(4):267-270.
  10. Tampaki M, Gatselis NK, Savvanis S, Koullias E, Saitis A, Gabeta S, et al. Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers. Eur J Gastroenterol Hepatol. 2020 Dec;32(12):1545-1552.
  11. Svetel M, Pekmezović T, Petrović I, Tomić A, Kresojević N, Jesić R, et al. Long-term outcome in Serbian patients with Wilson disease. Eur J Neurol. 2009 Jul;16(7):852-7.
  12. Giagheddu A, Demelia L, Puggioni G, Nurchi AM, Contu L, Pirari G, et al. Epidemiologic study of hepatolenticular degeneration (Wilson’s disease) in Sardinia (1902-1983). Acta Neurol Scand. 1985 Jul;72(1):43-55.
  13. Litwin T, Dusek P, Szafrański T, Dzieżyc K, Członkowska A, Rybakowski JK. Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Ther Adv Psychopharmacol. 2018 Jul;8(7):199-211.
  14. Tampaki M, Gatselis NK, Savvanis S, Koullias E, Saitis A, Gabeta S, et al. Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers. Eur J Gastroenterol Hepatol. 2020 Dec;32(12):1545-1552.
DOI: https://doi.org/10.2478/amma-2025-0026 | Journal eISSN: 2668-7763 | Journal ISSN: 2668-7755
Language: English
Page range: 197 - 203
Submitted on: Feb 5, 2025
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Accepted on: Jun 6, 2025
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Published on: Sep 18, 2025
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2025 Isabela Raluca Musteață, Septimiu Toader Voidăzan, Mihaela Alexandra Budianu, Liviu Moraru, published by University of Medicine, Pharmacy, Science and Technology of Targu Mures
This work is licensed under the Creative Commons Attribution 4.0 License.