Gene therapy is coming. Indeed, it’s already in Dallas. Millions of North Texas-area patients with previously intractable diseases will benefit
Month: June 2020
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency (ECHS1)Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency (ECHS1)
Clinical characteristics. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described:
How does gene replacement therapy work?How does gene replacement therapy work?
Gene replacement therapy is being studied as a treatment option for genetic diseases, and we want to help you understand
Bringing Hope to Children Through a Revolution in Gene TherapyBringing Hope to Children Through a Revolution in Gene Therapy
In pediatric neurology, many diseases are caused by absent or mutated genes. The genomic revolution has allowed scientists to sequence
Clinical, biochemical, and genetic features of four patients with ECHS1Clinical, biochemical, and genetic features of four patients with ECHS1
Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the