In:
Acta Medica (Hradec Kralove, Czech Republic), Charles University in Prague, Karolinum Press, Vol. 40, No. 1 ( 1997), p. 17-19
Abstract:
The detection of organic acidurias is a part of our screening programme for inherited metabolic diseases. Adapted procedure is differentiated and involves several steps: 1) thin-layer chromatography (TLC) in the case of an abnormal finding followed by 2) gas chromatography (GC). The next step of the investigation, using 3) gas chromatography mass-spectrometry (GS-MS) is reserved for more complicated and dubious analyses. In acutely sick patients and in the case of discrepancies between TLC results on the one hand, and clinical symptoms, supported by other laboratory findings on the other, the GC or GC-MS-analysis is performed immediately. Some examples of metabolic disorders, identified by this procedure, are presented.
Type of Medium:
Online Resource
ISSN:
1211-4286
,
1805-9694
DOI:
10.14712/18059694.2020.37
Language:
English
Publisher:
Charles University in Prague, Karolinum Press
Publication Date:
1997
detail.hit.zdb_id:
2002210-4
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