The role of TLC in the screening of inherited metabolic diseases |
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Authors: | E Marklová |
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Institution: | (1) Department of Pediatrics, Laboratory of Inherited Metabolic Diseases, Faculty of Medicine and Faculty Hospital, Charles University, 500 05 Hradec Králové, Czech Republic |
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Abstract: | Summary 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.
Presented at the 21st ISC held in Stuttgart, Germany, 15th–20th September, 1996 |
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Keywords: | Thin-layer chromatography Screening Inherited metabolic diseases |
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