Abstract:Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging.
Aim of work:To search for a specific magnetic resonance imaging (MRI) diagnostic finding common to OAs. Material and Methods: This c… Show more
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