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Pitfalls and drawbacks in screening of congenital disorders of glycosylation
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Eliška Marklová
Published/Copyright:
June 1, 2005
Abstract
Congenital disorders of glycosylation include a group of diseases, each of them caused by different protein (mostly enzyme) impairment due to a specific gene defect. The many subtypes are classified according to clinical features, enzymology and molecular genetic analyses. Problems in diagnostics arise from the great diversity in clinical presentation, usually age-related, and different severities of individual types of these, by far underdiagnosed, diseases. Also the biochemical findings tend to vary, even within a single type. No one screening test, common for all types, is available so far. Several methods of choice may be used in the first approach; other procedures must follow for detailed typing of the defect. Possible drawbacks and pitfalls in the diagnostics from the viewpoint of our 3-year studies and practical screening experience are presented.
Published Online: 2005-6-1
Published in Print: 2004-6-7
Copyright © 2004 by Walter de Gruyter GmbH & Co. KG
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