Strategic validation of variants of uncertain significance in ECHS1 genetic testing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of medical genetics"
DOI: 10.1101/2022.10.09.22280834
Abstract: ECHS1 is the causative gene for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. While genetic analysis studies have diagnosed numerous cases with ECHS1 variants, the increasing number of variants of uncertain significance (VUS) in genetic diagnosis… read more here.
Keywords: echs1; strategic validation; validation; uncertain significance ... See more keywords
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15515
Abstract: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA) hydrolase (HIBCH) and short‐chainenoyl‐CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic… read more here.
Keywords: movement disorders; disorders valine; echs1; hibch ... See more keywords