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Article

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Human molecular genetics - 1 Mar 2004

Grubenmann Claudia E, Frank Christian G, Hülsmeier Andreas J, Schollen Els, Matthijs Gert, Mayatepek Ertan, Berger Eric G, Aebi Markus, Hennet Thierry

Abstract excerpt

Defects of N-linked glycosylation represent diseases with multiple organ involvements that are classified as congenital disorders of glycosylation (CDG). In recent years, several CDG types have been attributed to defects of dolichol-linked oligosaccharide assembly in the endoplasmic reticulum. The profiling of [3H]mannose-labeled lipid-linked oligosaccharides was instrumental in identifying most of these...

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Source

Identifiers

PMID: 14709599
DOI: 10.1093/hmg/ddh050

Genes

ALG1

Variants

Provenance

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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Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.PMID 14709599Read ↗

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.Semantic proximity Read ↗

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