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A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
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.
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.
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.
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