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Long-chain fatty acid beta-oxidation defects are associated with a series of clinical and biochemical abnormalities, including accumulation of long-chain acyl-CoA esters which have been shown to(More)
Long-chain fatty acid oxidation deficient patients present early in life with more severe features than patients with a medium-chain fatty acid oxidation deficiency. This may be related to the more(More)
Among the abnormal biochemical findings, a mild to severe lactic acidaemia (Treem et al 1994) is frequently described in patients with a long-chain fatty acid ~oxidation disorder, together with a(More)
Over the last years acylcarnitines have emerged as important biomarkers for the diagnosis of mitochondrial fatty acid beta-oxidation (mFAO) and branched-chain amino acid oxidation disorders assuming(More)