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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
Metabolites. 2024 Apr 20;14(4):238. doi: 10.3390/metabo14040238.
Metabolites. 2024.
PMID: 38668366
Free PMC article.
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.
Penkl A, Reunert J, Debus OM, Homann A, Och U, Rust S, Marquardt T.
Penkl A, et al.
Am J Med Genet A. 2022 Mar;188(3):941-947. doi: 10.1002/ajmg.a.62581. Epub 2021 Dec 7.
Am J Med Genet A. 2022.
PMID: 34874093
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