Article

Ensemble kinetic modelling links residual enzyme activity to clinical symptoms in mitochondrial β-oxidation defects

2026-05-08

Abstract excerpt

The mitochondrial fatty acid β-oxidation (mFAO) is an important source of energy when carbohydrate stores are depleted. It is also involved in many diseases, including inherited fatty-acid oxidation deficiencies (mFAODs). Patients with the same genetic variant often present with clinically heterogeneous phenotypes, but the mechanisms contributing to this heterogeneity are poorly understood. To investigate the unde...

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Literature Corpus work: a9bb8f28-4faa-5c26-8b61-c8a17140622b
DOI: 10.64898/2026.05.05.722902

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