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Article

CDG IIx with unusual phenotype.

Journal of inherited metabolic disease - 1 Jan 2004

Cheillan D, Cognat S, Dorche C, Jaeken J, Vianey-Saban C, Guffon N

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We repo...

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Identifiers

PMID: 15065572
DOI: 10.1023/b:boli.0000016679.20481.4a

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15065572-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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