Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of
N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and …

Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation
[PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also …

Essentials• We investigated the molecular base of antithrombin deficiency in cases without
SERPINC1 defects.• 27% of cases presented hypoglycosylation, transient in 62% and not …

A “state of the Art” lecture titled “Hemostatic Defects in Congenital Disorders of
Glycosylation” was presented at the ISTH 2022 congress. Congenital disorders of …

Inherited deficiencies of natural anticoagulants such as antithrombin (AT; gene: SERPINC1),
protein C (PC; PROC), and protein S (PS; PROS1), with the prevalence in the general …

PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused
by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the …

Objective To describe the clinical, biochemical, and genetic features of both new and
previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in …

Multifactorial hypercoagulable state associated with a thrombotic phenotype in
phosphomannomutase-2 congenital disorder of glyco Page 1 1 Letter to the Editor (revised …

Background Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption
during pregnancy; although additional factors might be involved, as development and …

Antithrombin is, together with protein C, the main endogenous anticoagulant. The broad
ranges of target procoagulant proteases, which include thrombin (FIIa) and activated factor X …