Associated Papers
ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies.
Fu Q et al.
Orphanet Journal of Rare Diseases, 2025
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.
Liu Y et al.
Molecular Genetics and Metabolism, 2025
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Luo X et al.
Journal of Translational Medicine, 2025
Structural and biochemical mechanism of short-chain enoyl-CoA hydratase (ECHS1) substrate recognition.
Su G et al.
Communications Biology, 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
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