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Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Pop A, et al. Among authors: kirby t. Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4. Mol Genet Metab. 2020. PMID: 32402538 Free article.
Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
Walters DC, Lawrence R, Kirby T, Ahrendsen JT, Anderson MP, Roullet JB, Murphy EJ, Gibson KM; SSADH Deficiency Investigators Consortium (SDIC). Walters DC, et al. Among authors: kirby t. J Child Neurol. 2021 Nov;36(13-14):1177-1188. doi: 10.1177/0883073820987742. Epub 2021 Feb 9. J Child Neurol. 2021. PMID: 33557678 Free PMC article.
673 results