Analytical approach in diagnosis of inherited metabolic diseases: Maple syrup urine disease (MSUD) - simultaneous analysis of metabolites in urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry (enantio-MDGC-MS)

Maple Syrup Urine disease (USUD) is an autosomal recessive inherited metabolic disorder of branched‐chain amino acid (L‐valin, L‐leucine, and L‐isoleucine metabolism named after the characteristic smell of affected patients urine. MSUD is caused by a deficiency of the branched‐chain α‐keto acid dehy...

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Veröffentlicht in:	Journal of high resolution chromatography 1997-07, Vol.20 (7), p.355-362
Hauptverfasser:	Podebrad, Frank, Heil, Martin, Leib, Saandra, Geier, Bernhard, Beck, Thomas, Mosandl, Armin, Sewell, Adrian C., Böhles, Hans
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoacid disorders Biological and medical sciences Enantioselective Multidimensional gas Chromatpgraphy-mass spectrometry (enantio-MDGC-MS) Errors of metabolism Inherited metabolic disease Maple syrup urine disease (MSUD) Medical sciences Metabolic diseases Methyl chloroformate (MCF) derivatization
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