Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)

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.


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

Full text is not available online.
If interested in a scan of this journal, contact NTO ČLS JEP.

Neonatology Paediatrics General practitioner for children and adolescents
Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account