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Article

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

American journal of medical genetics. Part A - 15 Aug 2005

Sun Liangwu, Eklund Erik A, Van Hove Johan L K, Freeze Hudson H, Thomas Janet A

Abstract excerpt

Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human ALG6 (hALG6). This gene encodes the alpha1,3-glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. In this report, we describe the first adult patient diagnosed with CDG-Ic, carrying two previously...

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Identifiers

PMID: 16007612
DOI: 10.1002/ajmg.a.30831

Genes

ALG6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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