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New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders

✍ Scribed by Paul M. Coates

Publisher
Springer
Year
1994
Tongue
English
Weight
920 KB
Volume
153
Category
Article
ISSN
0340-6997

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πŸ“œ SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATT
PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS
✍ MOHAMED A. NADA; CHRISTINE VIANEY-SABAN; CHARLES R. ROE; JIA-HUAN DING; MONIQUE πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 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