PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATT
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MOHAMED A. NADA; CHRISTINE VIANEY-SABAN; CHARLES R. ROE; JIA-HUAN DING; MONIQUE
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Article
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1996
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John Wiley and Sons
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English
โ 577 KB
Amniocytes isolated from two pregnancies at risk for fatty acid oxidation defects were incubated with stable isotopically labelled palmitate, in the presence of L-carnitine, to probe that pathway. The labelled acylcarnitines were then quantitated using tandem mass spectrometry. Amniocytes from a pre