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Cardiomyopathy in infancy and postmortem di diagnosis of a fatty acid oxidation defect

โœ Scribed by L.E. Seargeant; S. Phillips; L.A. Dilling; N. Giddins; C.R. Roe; C.R. Greenberg


Book ID
107740622
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
113 KB
Volume
28
Category
Article
ISSN
0009-9120

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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATT
โœ MOHAMED A. NADA; CHRISTINE VIANEY-SABAN; CHARLES R. ROE; JIA-HUAN DING; MONIQUE ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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