Congenital disorders of glycosylation (CDG) are one group among the disorders of
glycosylation. The latter comprise defects associated with hypoglycosylation but also defects …

Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk
factor for thrombosis. The study of antithrombin deficiency has generated excellent, and in …

Severe inherited thrombophilia includes rare deficiencies of natural anticoagulants
(antithrombin and proteins C and S) and homozygous or combined factor V Leiden and FII …

Background Two important questions regarding the genetics of pancreatic adenocarcinoma
(PDAC) are 1. Which germline genetic variants influence the incidence of this cancer; and 2 …

Introduction. Antithrombin is a serpin that inhibits multiple procoagulant serine proteases
and acts as an endogenous anticoagulant. Thus, congenital antithrombin deficiency …

Antithrombin deficiency, the most severe congenital thrombophilia, might be
underestimated, as some pathogenic variants are not detected by routine functional …

Background Glycosylation is one of the most complex post-translational modifications of
proteins and lipids, notably requiring many glycosyltransferases, glycosidases and sugar …

Background Antithrombin (AT) is the main physiological anticoagulant involved in
hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease …

Pediatric thromboembolism (≤ 18 years) is very rare (0.07-0.14/10,000/year) but may be
more prevalent in children with severe thrombophilia (protein C, protein S or antithrombin …

Existing evidence suggests that in most cases antithrombin deficiency can be explained by
mutations in its gene, SERPINC 1. We investigated the molecular background of …