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  • Title: Plasmalogen biosynthesis in the diagnosis of peroxisomal disorders.
    Author: Kremser K, Roscher A.
    Journal: J Clin Chem Clin Biochem; 1989 May; 27(5):315-7. PubMed ID: 2760566.
    Abstract:
    Fibroblasts of patients suffering from peroxisomal disorders such as chondrodysplasia punctata (rhizomelic type), neonatal adrenoleukodystrophy, Zellweger syndrome and control fibroblasts were used for the evaluation of a procedure suitable for pre- and postnatal diagnosis. This technique is based on the detection of impaired peroxisomal plasmalogen synthesis by means of a double substrate, double labelling technique using 14C-labelled hexadecanol and 3H-labelled hexadecylglycerol as precursors for peroxisomal and microsomal plasmalogen synthesis. Pathological cells are characterized by a decreased utilization of hexadecanol, thus resulting in an increased 3H/14C ratio within plasmalogens. Sensitivity and reproducibility of this method were improved by changing both the chromatographic conditions and the calculation of the diagnostic parameters.
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