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Clinical Chemistry 26: 1499-1503, 1980;
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Clinical Chemistry, Vol 26, 1499-1503, Copyright © 1980 by American Association for Clinical Chemistry

Application of "high-performance" liquid chromatography to the study of sphingolipidoses

MD Ullman, RE Pyeritz, HW Moser, DA Wenger and EH Kolodny

Quantitative high-performance liquid chromatographic analysis of perbenzoylated sphingolipids has been used to study the correlations of body chemistry to clinical phenomena. Plasma sphingolipids were isolated from 32 Gaucher (beta-glucosidase deficiency) and six Fabry (alpha-galactosidase deficiency) patients by solvent partition and chromatographic separation on silicic acid columns. Plasma sphingolipids from a patient undergoing plasma-exchange were separated from interfering lipids with reversed-phase columns. Liquid- chromatographic analysis of sphingolipids provides useful supportive information for diagnoses because affected individuals are shown to possess increased circulating concentrations of the pathognomonic sphingolipid. We also used this technique to monitor sphingolipid concentrations in plasma and urine sediment during plasma exchange of a p atient with Fabry's disease. Regular plasma exchanges produced and maintained decreased concentrations of sphingolipids in plasma, but near pre-exchange concentrations were observed within days after the therapy was terminated.


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J. E.M. Groener, B. J.H.M. Poorthuis, S. Kuiper, M. T.J. Helmond, C. E.M. Hollak, and J. M.F.G. Aerts
HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma
Clin. Chem., April 1, 2007; 53(4): 742 - 747.
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Copyright © 1980 by the American Association for Clinical Chemistry.