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Article

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Molecular genetics and metabolism - 1 Jan 2000

Riess Suzi, Reddihough Dinah Susan, Howell Katherine Brooke, Dagia Charuta, Jaeken Jaak, Matthijs Gert, Yaplito-Lee Joy

Abstract excerpt

Congenital disorders of glycosylation (CDG) represent an expanding family of metabolic disorders with a wide range of biochemical, molecular and clinical phenotypes. ALG3-CDG (CDG-Id), due to a defect in endoplasmic reticulum (ER) mannosyltransferase VI, is one of the less common types of CDG-I. We describe two Vietnamese siblings with confirmed ALG3-CDG (CDG-Id) by molecular testing. As far as we are aware, they...

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Source

Identifiers

PMID: 23791010
DOI: 10.1016/j.ymgme.2013.05.020

Genes

ALG3

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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