Day: June 9, 2020

Clinical characteristics. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described:

Gene replacement therapy is being studied as a treatment option for genetic diseases, and we want to help you understand

In pediatric neurology, many diseases are caused by absent or mutated genes. The genomic revolution has allowed scientists to sequence

Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the