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  • Title: Chromatography for diagnosis of metabolic diseases.
    Author: Jellum E.
    Journal: J Chromatogr; 1988 Oct 28; 452():435-41. PubMed ID: 2468681.
    Abstract:
    Chromatographic techniques, including computerized capillary gas chromatography-mass spectrometry and high-performance liquid chromatography with rapid scanning detection are important parts of a multicomponent analytical system designed for the diagnosis of human metabolic disorders. The usefulness of such a system is exemplified by the finding of a new case with the very rare disease hypersarcosinuria and the detection of unusual metabolites in a case of phenylketonuria.
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