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Updated: Jul 18, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 26, 2010
Chromatography for diagnosis of metabolic diseases
1Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway.
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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