Associated Papers
[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025
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
Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Wu J et al.
Molecular Genetics & Genomic Medicine, 2025
Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency.
Mele S et al.
Journal of Inherited Metabolic Disease, 2025
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.
Engelstad K et al.
Annals of Clinical and Translational Neurology, 2021
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