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

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

Journal of human genetics - 1 Jan 2005

Endo Yoriko, Fateen Ekram, Aoyama Yoshiko, Horinishi Asako, Ebara Tetsu, Murase Toshio, Shin Yoon S, Okubo Minoru

Abstract excerpt

Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by a deficiency in the glycogen debranching enzyme. The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group-prevalent mutations have been reported in the North African Jewish population and in an isolate such as the...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Gene Frequency

Share to Glycogen Debranching Enzyme System

Share to Haplotypes

Share to Sequence Deletion

Source

Identifiers

PMID: 16189622
DOI: 10.1007/s10038-005-0291-3

Genes

AGL

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.PMID 16189622Read ↗

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

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.Semantic proximity Read ↗

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

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.Semantic proximity Read ↗

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.Semantic proximity Read ↗

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

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

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.Semantic proximity Read ↗

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.Semantic proximity Read ↗

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.Semantic proximity Read ↗

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.Semantic proximity Read ↗

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