TY  - GEN 
AU  - Pata, Silvia
AU  - Gil Hernández, Ángel
PY  - 2022
UR  - https://hdl.handle.net/10481/77058
AB  - Background: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine
catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the
accumulation of...
LA  - eng
PB  - BMC
KW  - Children
KW  - Enoyl-CoA hydratase
KW  - Leigh syndrome
KW  - Diet
KW  - Valine
TI  - Clinical improvements after treatment with a low‑valine and low‑fat diet in a pediatric patient with enoyl‑CoA hydratase, short chain 1 (ECHS1) deficiency
DO  - 10.1186/s13023-022-02468-6
ER  -