References
- Litwin T, Czlonkowska A. Wilson disease-factors affecting clinical presentation. Neurol Neurochir Pol 2013;47:161-9.
- Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr 2009;48:72-7. https://doi.org/10.1097/MPG.0b013e31817d80b8
- Huster D. Wilson disease. Best Pract Res Clin Gastroenterol 2010;24:531-9. https://doi.org/10.1016/j.bpg.2010.07.014
- Endo F, Taketa K, Nakamura K, Awata H, Tanoue A, Eda Y, et al. Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease. J Inherit Metab Dis 1994;17:616-20. https://doi.org/10.1007/BF00711601
- Ohura T, Abukawa D, Shiraishi H, Yamaguchi A, Arashima S, Hiyamuta S, et al. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J Inherit Metab Dis 1999;22:74-80. https://doi.org/10.1023/A:1005455401076
- Yamaguchi Y, Aoki T, Arashima S, Ooura T, Takada G, Kitagawa T, et al. Mass screening for Wilson's disease: results and recommendations. Pediatr Int 1999;41:405-8. https://doi.org/10.1046/j.1442-200x.1999.01096.x
- Seo JK. Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis. Pediatr Gastroenterol Hepatol Nutr 2012;15:197-209. https://doi.org/10.5223/pghn.2012.15.4.197
- Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005;41:668-70. https://doi.org/10.1002/hep.20601
- Beyersdorff A, Findeisen A. Morbus Wilson: case report of a two-year-old child as first manifestation. Scand J Gastroenterol 2006;41:496-7. https://doi.org/10.1080/00365520500389453
- Schoen RE, Sternlieb I. Clinical aspects of Wilson's disease. Am J Gastroenterol 1990;85:1453-7.
- Mak CM, Lam CW, Tam S. Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Clin Chem 2008; 54:1356-62. https://doi.org/10.1373/clinchem.2008.103432
- Robin X, Turck N, Hainard A, Tiberti N, Lisacek F, Sanchez JC, et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinformatics 2011;12:77. https://doi.org/10.1186/1471-2105-12-77
- Hahn SH. Population screening for Wilson's disease. Ann N Y Acad Sci 2014;1315:64-9. https://doi.org/10.1111/nyas.12423
- Squires RH Jr, Shneider BL, Bucuvalas J, Alonso E, Sokol RJ, Narkewicz MR, et al. Acute liver failure in children: the first 348 patients in the pediatric acute liver failure study group. J Pediatr 2006;148:652-8. https://doi.org/10.1016/j.jpeds.2005.12.051
- Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH Jr, et al; Pediatric and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008;48:1167-74. https://doi.org/10.1002/hep.22446
- Tapper EB, Rahni DO, Arnaout R, Lai M. The overuse of serum ceruloplasmin measurement. Am J Med 2013;126:926.e1-5. https://doi.org/10.1016/j.amjmed.2013.01.039
- Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42. https://doi.org/10.1034/j.1600-0676.2003.00824.x
Cited by
- Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism : Case report with a literature review vol.95, pp.49, 2016, https://doi.org/10.1097/md.0000000000005331
- How to use tests for disorders of copper metabolism vol.102, pp.6, 2015, https://doi.org/10.1136/archdischild-2016-310960
- ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency vol.64, pp.1, 2018, https://doi.org/10.1007/s12031-017-0997-7
- Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease vol.6, pp.None, 2015, https://doi.org/10.3389/fped.2018.00106
- Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease vol.33, pp.26, 2015, https://doi.org/10.3346/jkms.2018.33.e177