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Description
It is postulated that clinical symptoms, including CNS complications such as convulsion, coma and lethargy, may be triggered by the accumulation of metabolites and their acyl-CoA derivatives that disrupt intermediary metabolism [6669]
In the univariate analysis, factors associated with improved NIRS data were l-carnitine administration (p = 0.0038) and baseline NIRS data (p = 0.0010) (Table 2)
The story of Rett syndrome: From clinic to neurobiology
The underlying cause of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency are mutations in the ACADVL gene [101]
