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Article

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Molecular genetics and metabolism - 1 Nov 2009

Stölting Torsten, Omran Heymut, Erlekotte Anne, Denecke Jonas, Reunert Janine, Marquardt Thorsten

Abstract excerpt

Congenital disorders of glycosylation (CDG) are an expanding group of inherited disorders caused by defects in the N- or O-Glycosylation of proteins and lipids. Several CDG subtypes have been described so far, including CDG type Ih which is caused by a deficiency of the dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha1,3-glucosyltransferase (hALG8). The defect leads to an accumulation of...

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Source

Identifiers

PMID: 19648040
DOI: 10.1016/j.ymgme.2009.06.010

Genes

ALG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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