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001-es BibID:BIBFORM069490
Első szerző:Bereczky Zsuzsanna (orvosi laboratóriumi diagnosztika szakorvos)
Cím:Deficiencies of the natural anticoagulants : novel clinical laboratory aspects of thrombophilia testing / Bereczky Zsuzsanna, Gindele Réka, Speker Marianna, Kállai Judit
Dátum:2016
Megjegyzések:Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use. The latest guideline on clinical and laboratory management of thrombophilia kept the relatively old laboratory recommendations unchanged. This is partly because of the existence of unresolved problems with the laboratory tests used for diagnosis. Based on the literature and our previous research here we discuss the unresolved problems, the recently raised questions and issues concerning AT, PC and PS laboratory diagnosis and summarize the recent findings in molecular genetic investigations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
thrombophilia
antithrombin
protein C
protein S
thrombophilia testing
Megjelenés:The Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. - 27 : 2 (2016), p. 130-146. -
További szerzők:Gindele Réka (1987-) (molekuláris biológus) Speker Marianna Kállai Judit (1983-) (molekuláris biológus)
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