Associated Papers
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
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Sun D et al.
Bmc Medical Genetics, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D et al.
Annals of Clinical and Translational Neurology, 2020
32329585 (PubMed )
Supplement: ACN3-7-839-s001.pdf
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.
Yang H et al.
Bmc Pediatrics, 2020
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Carlston CM et al.
Jimd Reports, 2019
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Sharpe AJ et al.
Cells, 2018
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK et al.
Molecular Genetics and Metabolism, 2017
Select a paper to view details