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

Glycogen storage disease type III in the Irish population.

Journal of inherited metabolic disease - 1 Dec 2010

Crushell Ellen, Treacy Eileen P, Dawe J, Durkie M, Beauchamp Nicholas J

Abstract excerpt

Glycogen storage disease type III (GSD III) results from mutations of the AGL gene encoding the glycogen debrancher enzyme. The disease has clinical and biochemical heterogeneity reflecting the severity of the AGL mutations. We sought to characterise the molecular defects in our cohort of Irish patients with GSD III. Fifteen patients from eight unrelated Irish families were identified: six males and nine females....

Read the complete abstract on PubMed

Topics

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

Share to Disease Progression
Share to Founder Effect
Share to Glycogen Debranching Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heredity

Share to Homozygote

Share to Ireland

Share to Severity of Illness Index

Share to Treatment Outcome

Source

Identifiers

PMID: 20490926
DOI: 10.1007/s10545-010-9096-4

Genes

AGL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Glycogen storage disease type III in the Irish population.PMID 20490926Read ↗

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.Semantic proximity Read ↗

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.Semantic proximity Read ↗

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.Semantic proximity Read ↗

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.Semantic proximity Read ↗

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.Semantic proximity Read ↗

Molecular genetics of late onset glycogen storage disease II in Italy.Semantic proximity Read ↗

Molecular characterization of glycogen storage disease type III.Semantic proximity Read ↗

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.Semantic proximity Read ↗

Novel variants in Turkish patients with glycogen storage disease.Semantic proximity Read ↗

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.Semantic proximity Read ↗

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.Semantic proximity Read ↗

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.Semantic proximity Read ↗

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