The list of interrogation techniques
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metabolite / enzyme 2,8-dihydroxyadenine adenylatesuccinate lyase amino acids arylsulfatase A protein, pH, sugar, ketones biotinidase cystine galactose galactose and gal-1-phosphate galactose-1-PUT glycogen guanidineacetate homocysteine carnitine free/total oxoacids homogentisic acid orotic acid sialic acid free/total phenylpyruvic acid lactate mucopolysaccharides mucopolysaccharides, electrophoresis oligosaccharides organic acids glycosilation disorders - CDG purines a pyrimidines carbohydrates sulphure-IV oxides thiosulphates transferrine CDG |
methods HPCE, DAD-detection deficiency screening, SAICAR detection; HPCE AAA 339 M, 525nm, ninhydrine det quant. determination, spectrophotometric tentative determination by paper (heptaphane) quant., phot. 546nm, substrate n-biotine-PABA AAA 339 M, 525nm, detection by ninhydrine photometrically, Boehringer sets extraction of blood paper by isopropanol, TLC enzyme activity, Buetler test separ., hydrolysis, glukose determination TLC HPLC, TCEP reduction, derivatization SBD-F enzym. determination, radioisotopic approximate test with 2,4-dinitrophenylhydrazine approximate test (alkali) screening, spectrophotometrically; HPCE quant. determination, spectrophotometrically approximate test with FeCl3 enzym. determination, spectrophotometrically quant. determination, spectrophotometrically qual. analysis, electrophoresis TLC, detection res/orcinol GC/MS, ethoxylation elektrofocusation of transferrin HPCE, DAD-detection TLC, detection by naftoresorcinol app. test, Merck, sulphidoxidase deficienci approximate test with NaN3 and iodine isoelectric focusation |
material u u u, s s u k u u, s ks ks s, ery u p u, s u u u u u s, de, li u u u u ks u u u u s |
Used abbreviations: u – urine, s – serum, p – plasma, ks – blood spot, de – de-proteinate, li – liquor,
ery – erythrocytes (smear directly to the tubes with EDTA)