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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Huang WL, Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, Schwartz PH, Latini A, Abdenur JE. Huang WL, et al. Among authors: steenari mr. Mol Genet Metab Rep. 2023 Dec 2;38:101025. doi: 10.1016/j.ymgmr.2023.101025. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38125072 Free PMC article.
13 results