[1] M. Mathur, E. Singh, T. B. Poduval, and A. V. Rao, “Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson’s disease,” Indian J. Med. Res., vol. 141, no. 2, p. 175, 2015.
[2] C. Chen, B. Shen, J.-J. Xiao, R. Wu, S. J. D. Canning, and X.-P. Wang, “Currently clinical views on genetics of Wilson’s disease,” Chin. Med. J. (Engl)., vol. 128, no. 13, pp. 1826–1830, 2015.
[3] A. Chanpong and A. Dhawan, “Wilson disease in children and young adults-State of the art,” Saudi J. Gastroenterol. Off. J. Saudi Gastroenterol. Assoc., vol. 28, no. 1, p. 21, 2022.
[4] J. O. T. Sipilä, L. Kytövuori, and V. Kaasinen, “Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson’s disease,” J. Neurol. Sci., vol. 448, p. 120620, 2023.
[5] G. Gromadzka, M. Bendykowska, and A. Przybyłkowski, “Wilson’s disease—Genetic puzzles with diagnostic implications,” Diagnostics, vol. 13, no. 7, p. 1287, 2023.
[6] R. Cocoş, A. Şendroiu, S. Schipor, L. C. Bohîlţea, I. Şendroiu, and F. Raicu, “Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson’s disease: genetic and clinical homogeneity,” PLoS One, vol. 9, no. 6, p. e98520, 2014.
[7] M. Quinodoz et al., “Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity,” Am. J. Hum. Genet., vol. 109, no. 3, pp. 457–470, 2022.
[8] P. Socha et al., “Wilson’s disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition,” J. Pediatr. Gastroenterol. Nutr., vol. 66, no. 2, pp. 334–344, 2018.
[9] A. J. Coffey et al., “A genetic study of Wilson’s disease in the United Kingdom,” Brain, vol. 136, no. 5, pp. 1476–1487, 2013.
[10] P. Ferenci et al., “Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease,” Hepatology, vol. 69, no. 4, pp. 1464–1476, 2019.
[11] C. E. Mordaunt et al., “Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers,” Epigenetics Chromatin, vol. 12, no. 1, pp. 1–16, 2019.
[12] A. Członkowska, M. Rodo, A. Wierzchowska‐Ciok, L. Smolinski, and T. Litwin, “Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease,” Liver Int., vol. 38, no. 10, pp. 1860–1866, 2018.
[13] A. Poujois, J. Poupon, and F. Woimant, “Direct determination of non-ceruloplasmin-bound copper in plasma,” in Clinical and translational perspectives on Wilson disease, Elsevier, pp. 249–255, 2019.
[14] K. H. Weiss et al., “Bis-choline tetrathiomolybdate in patients with Wilson’s disease: an open-label, multicentre, phase 2 study,” Lancet Gastroenterol. Hepatol., vol. 2, no. 12, pp. 869–876, 2017.
[15] M. Leung, J. Wu Lanzafame, and V. Medici, “Switching pharmacological treatment in Wilson disease: case report and recommendations,” J. Investig. Med. high impact case reports, vol. 8, p. 2324709619896876, 2020.
[16] B. Gul, S. Firasat, R. Tehreem, T. Shan, and K. Afshan, “Analysis of Wilson disease mutations in copper binding domain of ATP7B gene,” PLoS One, vol. 17, no. 6, p. e0269833, 2022.
[17] F. Maghool et al., “Rescue effect of curcumin against copper toxicity,” J. Trace Elem. Med. Biol., p. 127153, 2023.
[18] C. Weyh, K. Krüger, P. Peeling, and L. Castell, “The role of minerals in the optimal functioning of the immune system,” Nutrients, vol. 14, no. 3, p. 644, 2022.
[19] S. Shribman et al., “Investigation and management of Wilson’s disease: a practical guide from the British Association for the Study of the Liver,” Lancet Gastroenterol. Hepatol., 2022.
[20] S. Jia et al., “Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China,” J. Clin. Lab. Anal., vol. 36, no. 11, p. e24735, 2022.
[21] F. Zolfizadeh et al., “Factors Associated with Infant Mortality due to Congenital Anomalies: A Population-Based Case-Control Study,” Iran. J. Public Health, vol. 51, no. 5, p. 1118, 2022.
[22] D. R. P. Hiremath, D. R. M. L. S. Nair, D. R. R. P. Patange, D. R. J. Salunkhe, D. R. P. Naregal, and M. A. Mulani, “Relation between Gender, Birth Outcomes, Gestational Age and Gravida with Congenital malformation,” J. Pharm. Negat. Results, pp. 5940–5945, 2022.
[23] T. Yasmin, E. M. Andres, K. Ashraf, M. A. R. Basra, and M. H. Raza, “Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes,” Ann. Hum. Biol., vol. 50, no. 1, pp. 100–107, 2023.
[24] V. Lodato et al., “Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?,” J. Cardiovasc. Dev. Dis., vol. 9, no. 2, p. 47, 2022.
[25] O. Q. Yaseen, M. Q. Al-Ani, and Y. H. Majeed, “In-Silico prediction of impact on protein function caused by non-synonymous single nucleotide polymorphism in human ATP7B gene associated with Wilson disease,” Res. J. Biotechnol. Vol, vol. 15, p. 3, 2020.
[26] R. Tasmeen et al., “Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease,” Indian J. Gastroenterol., vol. 41, no. 5, pp. 456–464, 2022.
[27] D. Xiong, D. Lee, L. Li, Q. Zhao, and H. Yu, “Implications of disease-related mutations at protein–protein interfaces,” Curr. Opin. Struct. Biol., vol. 72, pp. 219–225, 2022.
[28] P. Lei, S. Ayton, and A. I. Bush, “The essential elements of Alzheimer’s disease,” J. Biol. Chem., vol. 296, 2021.
[29] B. A. Kanaan, M. T. S. Al-Ouqaili, and R. M. Murshed, “In terms of the PCR-RFLP technique, genetic screening of Ala575Val inactivating mutation in patients with amenorrhea,” J. Emerg. Med. Trauma Acute Care, vol. 2022, no. 6, p. 8, 2022.
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