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

High frequency of missense mutations in glycogen storage disease type VI.

Journal of inherited metabolic disease - 1 Oct 2007

Beauchamp N J, Taybert J, Champion M P, Layet V, Heinz-Erian P, Dalton A, Tanner M S, Pronicka E, Sharrard M J

Abstract excerpt

Deficiency of liver glycogen phosphorylase in glycogen storage disease (GSD) type VI results in a reduced ability to mobilize glucose from glycogen. Six mutations of the PYGL gene, which encodes the liver isoform of the enzyme, have been identified in the literature. We have characterized eight patients from seven families with GSD type VI and identified 11 novel PYGL gene defects. The majority of the mutations...

Read the complete abstract on PubMed

Topics

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

Share to Severity of Illness Index
Share to Blood Glucose

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Lactic Acid

Share to Mutation, Missense

Share to Protein Conformation

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 17705025
DOI: 10.1007/s10545-007-0499-9

Genes

PYGL
PYGM

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

High frequency of missense mutations in glycogen storage disease type VI.PMID 17705025Read ↗

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.Semantic proximity Read ↗

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.Semantic proximity Read ↗

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.Semantic proximity Read ↗

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.Semantic proximity Read ↗

[Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].Semantic proximity Read ↗

A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.Semantic proximity Read ↗

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.Semantic proximity Read ↗

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.Semantic proximity Read ↗

Type-VI glycogen storage disease with compound mutation of the PYGL gene.Semantic proximity Read ↗

Clinical and genetic spectrum of GSD type 6 in Korea.Semantic proximity Read ↗

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.Semantic proximity Read ↗

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

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