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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.
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: gelb mh. 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.
High-throughput assay of 9 lysosomal enzymes for newborn screening.
Spacil Z, Tatipaka H, Barcenas M, Scott CR, Turecek F, Gelb MH. Spacil Z, et al. Among authors: gelb mh. Clin Chem. 2013 Mar;59(3):502-11. doi: 10.1373/clinchem.2012.189936. Epub 2013 Jan 11. Clin Chem. 2013. PMID: 23315484 Free PMC article.
475 results