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Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q; ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Gallagher RC, et al. Among authors: scott ai. Genet Med. 2018 Jul;20(7):683-691. doi: 10.1038/gim.2018.45. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543224 Free 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: scott ai. 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.
236 results