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Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023.
Front Genet. 2023.
PMID: 36936426
Free PMC article.
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D.
Masnada S, et al. Among authors: saielli la.
Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29.
Eur J Paediatr Neurol. 2020.
PMID: 32800686
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