Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides
- PMID: 33753100
- PMCID: PMC8666137
- DOI: 10.1053/j.gastro.2021.03.025
Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides
Comment on
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Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.Gastroenterology. 2021 Jun;160(7):2367-2382.e1. doi: 10.1053/j.gastro.2021.02.052. Epub 2021 Feb 25. Gastroenterology. 2021. PMID: 33640437 Free PMC article.
References
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- Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23:139–142. - PubMed
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- Merle U, Eisenbach C, Weiss KH, et al. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson’s disease. J Hepatol 2009; 51:925–930. - PubMed
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- Kluska A, Kulecka M, Litwin T, et al. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson’s disease phenotype. Liver Int 2019;39:177–186. - PubMed
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