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

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Human molecular genetics - 1 May 1998

Chang S, Rosenberg M J, Morton H, Francomano C A, Biesecker L G

Abstract excerpt

Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver phosphorylase activity. The course of these disorders is generally mild, but definitive diagnosis requires invasive procedures. We analyzed a Mennonite kindred with an autosomal recessive form of GSD6 to determine the molecular defect and develop a non-invasive diagnostic test. Linkage...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child, Preschool
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Infant

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 9536091
DOI: 10.1093/hmg/7.5.865

Genes

PYGL

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.PMID 9536091Read ↗

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

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

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

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

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

High frequency of missense mutations in 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 ↗

[Clinical features and genetic analysis of a child with glycogen storage disease type VI].Semantic proximity Read ↗

Molecular genetics of type 1 glycogen storage disease.Semantic proximity Read ↗

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.Semantic proximity Read ↗

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

Genetic diagnosis of Jordanian patients with glycogen storage diseases.Semantic proximity Read ↗

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