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Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature
BACKGROUND: Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS gene. Clinical phenotype includes severe developmental delay, regression, dystonia, seizures, elevated lactate, and brain MRI abnormalities consist...
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| 發表在: | BMC Pediatr |
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| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6996175/ https://ncbi.nlm.nih.gov/pubmed/32013919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-1947-z |
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