The role of TLC in the screening of inherited metabolic diseases

被引:0
|
作者
E. Marklová
机构
[1] Charles University,Department of Pediatrics, Laboratory of Inherited Metabolic Diseases, Faculty of Medicine and Faculty Hospital
来源
Chromatographia | 1997年 / 45卷
关键词
Thin-layer chromatography; Screening; Inherited metabolic diseases;
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中图分类号
学科分类号
摘要
Thin-layer chromatography (TLC) is a rapid, reliable and inexpensive screening technique for diagnosis of inherited metabolic diseases (IMD). Our screening program encompasses five main situations where the use of TLC is considered to be vindicated: (i) analysis of amino acids; (ii) screening for sugar defects; (iii) detection of pathological oligosaccharidurias; (iv) screening for organic acid disorders; and (v) detection of abnormalities in tryptophan metabolism. Examples are presented of chromatograms obtained from pathological samples.
引用
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页码:195 / 198
页数:3
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