Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

Annals of human genetics - 1 May 2007

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L

Abstract excerpt

Congenital Disorders of Glycosylation (CDG) are a group of recessive genetic disorders characterized by hypoglycosylation of glycoproteins. CDG-Ia, the most common type, is caused by mutations in the PMM2 gene, coding for a phosphomannomutase (PMM2; EC 5.4.2.8). The mutational spectrum of PMM2 comprises more than 80 different mutations but one of them, R141H, is particularly interesting due to its high frequency...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carbohydrate Metabolism, Inborn Errors
Share to Evolution, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Infant

Share to Infant, Newborn

Share to Phosphotransferases (Phosphomutases)

Share to Portugal

Share to Pregnancy

Source

Identifiers

PMID: 17166182
DOI: 10.1111/j.1469-1809.2006.00334.x

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.PMID 17166182Read ↗

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

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in SpainSemantic proximity Read ↗

Congenital disorders of glycosylation (CDG): Quo vadis?Semantic proximity Read ↗

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Semantic proximity Read ↗

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.Semantic proximity Read ↗

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.Semantic proximity Read ↗

[Molecular diagnosis of congenital disorders of glycosylation].Semantic proximity Read ↗

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

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

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

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.Semantic proximity Read ↗

A new insight into PMM2 mutations in the French population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.