𝔖 Bobbio Scriptorium
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Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders

✍ Scribed by Keow G. Sim; Judith Hammond; Bridget Wilcken


Book ID
117074703
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
388 KB
Volume
323
Category
Article
ISSN
0009-8981

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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