Discover Community Create You

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

Causes of mortality in the congenital disorders of glycosylation.

Molecular genetics and metabolism - 1 Mar 2025

Alharbi Hana, Horikoshi Seishu, Jenkins Sabrina Malone, Scaglia Fernando, Lam Christina, Morava Eva, Larson Austin, Edmondson Andrew C

Abstract excerpt

Congenital Disorders of Glycosylation (CDG) are a group of some 200 genetic disorders with PMM2-CDG being the most common disease. These disorders individually remain rare with poorly understood natural history (NH) and causes of mortality. We established a NH study for CDG and collected both prospective and retrospective data on CDG outcomes. In the current data set analysis on deceased patients, we describe the...

Read the complete abstract on PubMed

Topics

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

Share to Cause of Death
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Congenital Disorders of Glycosylation

Share to Glycosylation

Share to Infant

Share to Infant, Newborn

Share to Phosphotransferases (Phosphomutases)

Source

Open in PubMed Open full text

Identifiers

PMID: 39923392
DOI: 10.1016/j.ymgme.2025.109052
PMCID: PMC11892340

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Causes of mortality in the congenital disorders of glycosylation.PMID 39923392Read ↗

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosologySemantic proximity Read ↗

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

Immunological aspects of congenital disorders of glycosylation (CDG): a review.Semantic proximity Read ↗

Congenital disorders of glycosylation: new defects and still counting.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 ↗

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the communitySemantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Semantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Congenital disorders of glycosylation with neonatal presentation.Semantic proximity Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

Insights into complexity of congenital disorders of glycosylation.Semantic proximity Read ↗

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