Associated Papers
Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.
Eller MM et al.
Brain Communications, 2025
Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.
Eller MM et al.
Biorxiv : the Preprint Server for Biology, 2024
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y et al.
Journal of Medical Genetics, 2023
Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.
Burgin H et al.
The Febs Journal, 2023
35962613 (PubMed )
Supplement: FEBS-290-225-s001.xlsx › S5-_Patient_genotypes
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
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
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
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 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
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 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
Select a paper to view details