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Article

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

Journal of inherited metabolic disease - 1 Jan 2005

Coman D, Klingberg S, Morris D, McGill J, Mercer H

Abstract excerpt

We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16435227
DOI: 10.1007/s10545-005-0166-y

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.

Related research

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Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.PMID 16435227Read ↗

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Semantic proximity Read ↗

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).Semantic proximity Read ↗

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].Semantic proximity Read ↗

Congenital disorder of glycosylation-Ic: case report and genetic defect.Semantic proximity Read ↗

A New Missense Mutation in DPM2 Gene is Associated with a Milder Form of DPM2-CDG in Two Chinese SiblingsSemantic proximity Read ↗

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patientsSemantic proximity Read ↗

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.Semantic proximity Read ↗

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.Semantic proximity Read ↗

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Semantic proximity Read ↗

Three families with mild PMM2-CDG and normal cognitive development.Semantic proximity Read ↗

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.Semantic proximity Read ↗

Congenital disorder of glycosylation (CDG) type Ie. A new patient.Semantic proximity Read ↗

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