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

EDUARDO LÓPEZ LASOMARIA MERCEDES GIL CAMPOS2026-01-292026-01-29202210.1186/s13023-022-02468-62-s2.0-85137202708https://www.scopus.com/inward/record.uri?eid=2-s2.https://ucocris.uco.es/handle/123456789/35355Genetics (clinical)Pharmacology (medical)Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiencyresearch article