Publication | Open Access

Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA

Coupled AssayMitochondrial FunctionBiochemistryMitochondrial Acetoacetyl-coa ThiolaseGeneticsInherited Metabolic DiseaseT2-deficient PatientsMitochondrial DynamicPathologyGenetic DisorderMitochondrial MedicineMetabolismMedicineOxidative Stress