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Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

✍ Scribed by Wulf Röschinger; Bernhard Olgemöller; Ralph Fingerhut; Bernhard Liebl; Adelbert A. Roscher

Publisher
Springer
Year
2003
Tongue
English
Weight
220 KB
Volume
162
Category
Article
ISSN
0340-6997

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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)
✍ Podebrad, Frank ;Heil, Martin ;Leib, Saandra ;Geier, Bernhard ;Beck, Thomas ;Mos 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 573 KB

## Abstract __M__aple Syrup __U__rine 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‐c