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2008 | 55 | 1 | 107-118
Article title

Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

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EN
Abstracts
EN
High-resolution 1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas 13C NMR remains almost unexploited. In this paper the application of 13C NMR spectroscopy of fivefold concentrated urine samples for diagnosis of selected metabolic diseases is reported. Various marker metabolites were identified in test urine samples from 33 patients suffering from 10 different diseases, providing information which could be crucial for their diagnoses. Spectra were accumulated for 2 h or overnight when using spectrometers operating at 9.4 or 4.7 T magnetic fields, respectively. Interpretation of the measurement results was based on a comparison of the peak positions in the measured spectrum with reference data. The paper contains a table with 13C NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to 1H NMR or any other analytical method.
Publisher

Year
Volume
55
Issue
1
Pages
107-118
Physical description
Dates
published
2008
received
2007-08-29
revised
2007-11-30
accepted
2007-12-27
(unknown)
2008-01-23
Contributors
author
  • Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland
  • Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland
  • The Children's Memorial Health Institute in Warsaw, Warszawa, Poland
  • Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv55p107kz
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