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Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ, Yi F, Dayuha R, Duong P, Horslen S, Camarata M, Coskun AK, Houwen RHJ, Pop TL, Zoller H, Yoo HW, Jung SW, Weiss KH, Schilsky ML, Ferenci P, Hahn SH. Collins CJ, et al. Among authors: dayuha r. 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.
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Poskanzer SA, Thies J, Collins CJ, Myers CT, Dayuha R, Duong P, Yi F, Chang IJ, Ochs HD, Torgerson TR, Hahn SH. Poskanzer SA, et al. Among authors: dayuha r. Mol Genet Genomic Med. 2020 Apr;8(4):e1172. doi: 10.1002/mgg3.1172. Epub 2020 Feb 17. Mol Genet Genomic Med. 2020. PMID: 32067425 Free PMC article.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T, Duong P, Dayuha R, Collins CJ, Beckman E, Thies J, Chang I, Lam C, Sun A, Scott AI, Thompson J, Singh A, Khaledi H, Gelb MH, Hahn SH. Zhang T, et al. Among authors: dayuha r. Mol Genet Metab. 2022 Aug;136(4):296-305. doi: 10.1016/j.ymgme.2022.06.006. Epub 2022 Jun 28. Mol Genet Metab. 2022. PMID: 35787971 Free PMC article.