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Comment
. 2020 Nov:29:101-102.
doi: 10.1016/j.ejpn.2020.09.005. Epub 2020 Sep 23.

Phenotypic spectrum of variants in the beta-oxidation enoyl-CoA hydratase-1 (ECHS-1) gene

J Finsterer  1
Affiliations
Comment

Phenotypic spectrum of variants in the beta-oxidation enoyl-CoA hydratase-1 (ECHS-1) gene

J Finsterer. Eur J Paediatr Neurol. 2020 Nov.
No abstract available

Keywords: Beta-oxidation; Mitochondrial; Multisystem; Ocular; mtDNA.

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Conflict of interest statement

Declaration of competing interest There are no conflicts of interest.

Comment on

  • 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. 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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