Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome
Karl Otfried Schwab, Regina Ensenauer, Dietrich Matern, Gökhan Uyanik, Birgit Schnieders, Ronald J.A. Wanders, Willy Lehnert
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