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  • Title: Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
    Author: Kölker S, Ramaekers VT, Zschocke J, Hoffmann GF.
    Journal: J Pediatr; 2001 Feb; 138(2):277-9. PubMed ID: 11174631.
    Abstract:
    A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.
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