In this publication, NMR is used to diagnose or follow patients with 4 different inborn errors of lipid metabolism:
This technique might have a widespread clinical use in the future, given its advantages (authetic standards often unnecessary, almost unequivocal lipid identification, and easy sample preparation).
Clin Chem. 2006 Jul;52(7):1395-405. Epub 2006 May 18.
Oostendorp M, Engelke UF, Willemsen MA, Wevers RA.
For more information on inherited disorders of lipid metabolism, see part 12 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator