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Recombinant adeno-associated virus (AAV) vectors have been used in preclinical gene therapy studies for their ability to cross the BBB, infect neurons, and mediate stable long-term expression of the transgene without inflammation or toxicity (Gonalves 2005

Tissue carnitine deficiency due to dietary lysine deficiency: Triglyceride accumulation and concomitant impairment in fatty acid oxidation

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects

The enzyme is responsible for catalyzing the initial step in the -oxidation of medium-chain fatty acids (C6C12) in the mitochondrial matrix