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Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC. Gechijian LN, et al. Among authors: deshusses c. ACS Chem Biol. 2024 Nov 15;19(11):2372-2382. doi: 10.1021/acschembio.4c00571. Epub 2024 Oct 17. ACS Chem Biol. 2024. PMID: 39418577 Free PMC article.