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

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Current molecular medicine - 1 Mar 2002

Moses Shimon W, Parvari Ruti

Abstract excerpt

Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues. The disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestations. The human GBE cDNA...

Read the complete abstract on PubMed

Topics

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

Share to 1,4-alpha-Glucan Branching Enzyme
Share to Age of Onset
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polysaccharides

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 11949934
DOI: 10.2174/1566524024605815

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.PMID 11949934Read ↗

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.Semantic proximity Read ↗

Neuromuscular forms of glycogen branching enzyme deficiency.Semantic proximity Read ↗

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).Semantic proximity Read ↗

A novel GBE1 gene variant in a child with glycogen storage disease type IV.Semantic proximity Read ↗

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.Semantic proximity Read ↗

Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and TreatmentSemantic proximity Read ↗

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Semantic proximity Read ↗

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

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

Case Report: Integrative Multiomics to Establish Pathogenicity of novel GBE1 R198T VariantSemantic proximity Read ↗

Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.Semantic proximity Read ↗

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.Semantic proximity Read ↗

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