Associated Papers
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.
D'Annibale O et al.
Molecular Genetics and Metabolism, 2025
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
Muntean C et al.
International Journal of Environmental Research and Public Health, 2022
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