Associated Papers
[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Wu J et al.
Molecular Genetics & Genomic Medicine, 2025
Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.
Murofushi Y et al.
Radiology Case Reports, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I et al.
Molecular Genetics and Metabolism, 2024
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y et al.
Journal of Medical Genetics, 2023
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT et al.
American Journal of Medical Genetics. Part A, 2021
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