Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Silvia Masnada, Cecilia Parazzini, P Bini, Mario Barbarini, Luisella Alberti, Marialuisa Valente, Luisa Chiapparini, Annalisa De Silvestri, Chiara Doneda, Maria Iascone, Laura Saielli, Cristina Cereda, Pierangelo Veggiotti, Carlo Corbetta, Davide Tonduti
Topics & Concepts
PhenotypeChemistryInternal medicineEndocrinologyBiochemistryMedicineGeneMetabolism and Genetic DisordersAmino Acid Enzymes and MetabolismEnzyme Structure and Function