Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA et al.
Clinical Genetics, 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
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
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD et al.
Jimd Reports, 2016
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