Chromatography for diagnosis of metabolic diseases.
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.
Jellum
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Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway.
D000596:Amino Acids / Q000032:analysis; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010661:Phenylketonurias / Q000652:urine; D012521:Sarcosine / Q000652:urine
D000596:Amino Acids; D012521:Sarcosine