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17 resultsUpdated October 25, 2026
1

The mutation spectrum and ethnic distribution of Wilson disease, a review

Molecular Genetics and Metabolism Reports 38 (2024)

Zahra Beyzaei; Arman Mehrzadeh; Niko Hashemi; Bita Geramizadeh

3

Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

International Journal of Molecular Sciences 25(4) (2024)

Elena Vasilievna Ovchinnikova; Mikhail Maksimovich Garbuz; Anna Aleksandrovna Ovchinnikova; Vadim Vladimirovich Kumeiko

5

Phenotype and molecular characterization of Wilson's disease in Morocco

Clinics and Research in Hepatology and Gastroenterology 48(5) (2024)

Nadia Abbassi; Aicha Bourrahouat; Eduardo Couchonnal Bedoya; Cécile Pagan; Meriem El Qabli; Sana Maidoumi; Abdelouahed Belmalih; Olivier Guillaud; Najib Kissani; Abdelhak Abkari; Imane Chahid; Mohammed Abdoh Rafai; Nezha Mouane; Yamna Kriouile; Saadia Aidi; Moustpha Hida; Mounia Lakhdar Idrissi; Mohammed Faouzi Belahsen; Mohammed El Abkari; Maria Rkain; Zahi Ismaili; Azeddine Sedki; Muriel Bost; Nisrine Aboussair; Alain Lachaux

6

Gene mutations in Wilson disease in Egyptian children: Report on two novel mutations

Arab Journal of Gastroenterology 15(3-4) (2014)

Fatma A. El-Mougy; Sahar A.A. Sharaf; Marwa M. Elsharkawy; Iman A. Mandour; Riham A. El-Essawy; Abeer M. Eldin; Heba M. Helmy; Dina H. Soliman; Lamia H. Selim; Heba M. Sharafeldin; Engy A. Mogahed; Hanaa M. El-Karaksy

7

APASL clinical practice guidance: the diagnosis and management of patients with Wilson’s disease

Hepatology International 20(4) (2026)

Wei Zhang; Hong You; Xiaojuan Ou; Jian Huang; Yuanyuan Kong; Fusheng Wang; Qin Ning; Lai Wei; Shuichiro Shiina; Han-Chieh Lin; Jin Mo Yang; Tawesak Tanwandee; Rino A. Gani; Diana A. Payawal; Barjesh C. Sharma; Jinlin Hou; Osamu Yokosuka; A. Kadir Dokmeci; Darrell Crawford; Jia-Horng Kao; Teerha Piratvisuth; Dong Jin Suh; Jose Sollano; George Lau; Shiv K. Sarin; Masao Omata; Jidong Jia

10

Geographic distribution of ATP7B mutations in Wilson disease

Annals of Human Biology 43(1) (2016)

Amanda Gomes; George V. Dedoussis

11

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Journal of Medical Case Reports 12(1) (2018)

Omid Daneshjoo; Masoud Garshasbi

12

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease

Biomedicines 12(12) (2024)

Mikhail Garbuz; Elena Ovchinnikova; Anna Ovchinnikova; Valeriya Vinokurova; Yulya Aristarkhova; Olga Kuziakova; Mariya Mashurova; Vadim Kumeiko

14

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review

Biochemical Genetics 63(2) (2025)

Halima Benzine; Saida Lhousni; Maria Rkain; Meryem Ouarzane; Redouane Boulouiz; Mohammed Bellaoui; Majida Charif

15

Case report: Co-occurrence of Wilson’s and Alexander’s diseases revealed by genetic analysis

Frontiers in Neurology 16 (2025)

Shufan Ge; Lanting Sun; Han Wang; Wenming Yang; Qiaoyu Xuan; Daiping Hua

16

Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease

Revista de Gastroenterología de México (English Edition) 84(2) (2019)

Y. Clark-Feoktistova; C. Ruenes-Domech; E.F. García-Bacallao; H. Roblejo-Balbuena; L. Feoktistova; I. Clark-Feoktistova; O. Jay-Herrera; T. Collazo-Mesa

17

Polimorfismo p.L456V, presencia en pacientes cubanos con diagnóstico clínico presuntivo de la enfermedad de Wilson

Revista de Gastroenterología de México 84(2) (2019)

Y. Clark-Feoktistova; C. Ruenes-Domech; E.F. García-Bacallao; H. Roblejo-Balbuena; L. Feoktistova; I. Clark-Feoktistova; O. Jay-Herrera; T. Collazo-Mesa