Authors: E. Marklová; Z. Albahri Authors‘ workplace: Dětská klinika LF UK a FN, Hradec Královépřednostka doc. MUDr. E. Pařízková, CSc. Published in: Čes-slov Pediat 2003; (7): 423-425. Category:
Spectrum of age-dependent clinical signs and abnormal biochemical results (routine laboratory, serumglycoproteins and their isoforms proportion) underline the screening of congenital defects of glycosylation (CDG).Abnormalities found by histology and various imaging methods may be helpful for the diagnostics. Decrease ofparticular enzymes activity in leukocytes and mutation analysis are fundamental for demonstration and precisetyping of the defect.
Key words: glycoproteins, defect of glycosylation, CDG, inherited metabolic disorders, diagnostics
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