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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
ECHS1 deficiency and its biochemical and clinical phenotype.
Ozlu C et al.
American Journal of Medical Genetics. Part A, 2022
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
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M et al.
Annals of Clinical and Translational Neurology, 2022
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
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Pajares S et al.
Molecular Genetics and Metabolism Reports, 2020
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
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Nair P et al.
Metabolic Brain Disease, 2016
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease.
Nsiah-Sefaa A et al.
Bioscience Reports, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD et al.
Jimd Reports, 2016
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M et al.
Human Genetics, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB et al.
Annals of Clinical and Translational Neurology, 2015