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Editorial
. 2021 Jun;160(7):2249-2251.
doi: 10.1053/j.gastro.2021.03.025. Epub 2021 Mar 19.

Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides

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Editorial

Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides

Valentina Medici. Gastroenterology. 2021 Jun.
No abstract available

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References

    1. Collins CJ, Yi F, Dayuha R, et al. Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease. Gastroenterology 2021. in press - PMC - PubMed
    1. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23:139–142. - PubMed
    1. 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
    1. 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
    1. Huster D, Kühne A, Bhattacharjee A, et al. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology 2012;142:947–956 e5. - PMC - PubMed

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