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Article

ALG1-CDG: a new case with early fatal outcome.

Gene - 25 Jan 2014

Rohlfing A-K, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff Sa, Meinhardt F, Hartmann H, Das A M, Marquardt T

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases. The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as ALG1-CDG (CDG-Ik). The phenotypical, molecular and...

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Source

Identifiers

PMID: 24157261
DOI: 10.1016/j.gene.2013.10.013

Genes

ALG1

Variants

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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