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Article

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Journal of inherited metabolic disease - 1 Aug 2001

Van Geet C, Jaeken J, Freson K, Lenaerts T, Arnout J, Vermylen J, Hoylaerts M F

Abstract excerpt

Congenital disorders of glycosylation (CDG) type I are mostly due to a deficient phosphomannomutase activity, called CDG Ia. CDG IIa (mutations in the MGAT2 gene) results from a deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II. CDG Ia patients predominantly have a thrombotic tendency, whereas our CDG IIa patient has an increased bleeding tendency, despite similar coagulation factor...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11596651
DOI: 10.1023/a:1010581613821

Genes

MGAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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