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Research Article: Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening

Date Published: 2023-06-05

Introduction:
Fatty acid oxidation disorders (FAODs) are a general term for a group of diseases related to the oxidative metabolism of fatty acids in mitochondria; dysfunction of any enzymes involved in the entry of fatty acids into mitochondria or in the ?-oxidation of fatty acids results in impaired fatty acid oxidation, impaired energy supply and accumulation of intermediate metabolites, thus affecting organs with high energy requirements such as the liver, myocardium, skeletal muscle, brain and even causing sudden death.…

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