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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y. Tsai AC, et al. Among authors: lin ht. Mol Genet Metab Rep. 2022 Mar 19;31:100859. doi: 10.1016/j.ymgmr.2022.100859. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782626 Free PMC article.
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Lin HT, Enchautegui-Colon Y, Huang YR, Zimmerman C, DeMarzo D, Tsai AC. Lin HT, et al. Mol Genet Metab Rep. 2022 Nov 26;33:100942. doi: 10.1016/j.ymgmr.2022.100942. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36466970 Free PMC article.
465 results