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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Detalles Bibliográficos
Autores principales: Yang, Hua, Yu, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996175/
https://www.ncbi.nlm.nih.gov/pubmed/32013919
http://dx.doi.org/10.1186/s12887-020-1947-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996175/
https://www.ncbi.nlm.nih.gov/pubmed/32013919
http://dx.doi.org/10.1186/s12887-020-1947-z

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