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Article

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

Duodecim; laaketieteellinen aikakauskirja - 1 Jan 2016

Sätilä Heli, Kuusela Anna-Leena, Pietilä Kati, Niinikoski Harri, Keskinen Päivi

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26951030

Genes

PMM2

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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