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S. E. Olpin, N. J. Manning, R. J. Pollitt, J. R. Bonham, M. Downing, and S. Clark

The Department of Neonatal Screening and Chemical Pathology Sheffield Children's Hospital Sheffield S10 2TH, UK

The release of 3H20 from [9,10-3H]myristate and/or [9,10-3H]palmitate has been used extensively for detecting medium- and long-chain fatty acid oxidation defects, both in cultured fibroblasts1,2 and in fresh lymphocytes.3 Over the past 10 years we have used both substrates to screen routinely for fatty acid oxidation defects in over 1,200 patients and have identified 113 individuals with specific fatty acid oxidation disorders (Table 1). More recently we have examined the use of a third substrate, [9,10-3H]oleate, to improve discrimination of long-chain defects.4

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