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 IX: High variability in clinical phenotype.

Molecular genetics and metabolism - 1 Jan 2000

Beauchamp Nicholas James, Dalton Ann, Ramaswami Uma, Niinikoski Harri, Mention Karine, Kenny Patricio, Kolho Kaija-Leena, Raiman Julian, Walter John, Treacy Eileen, Tanner Stuart, Sharrard Mark

Abstract excerpt

Glycogen storage disease type IX (GSD type IX) results from a deficiency of hepatic phosphorylase kinase activity. The phosphorylase kinase holoenzyme is made up of four copies of each of four subunits (alpha, beta, gamma and delta). The liver isoforms of the alpha-, beta- and gamma-subunits are encoded by PHKA2, PHKB and PHKG2, respectively. Mutation within these genes has been shown to result in GSD type IX....

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Glycogen Storage Disease

Share to Infant

Share to Polymorphism, Genetic

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 17689125
DOI: 10.1016/j.ymgme.2007.06.007

Genes

PHKG2

Variants

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

Glycogen storage disease type IX: High variability in clinical phenotype.PMID 17689125Read ↗

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

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Semantic proximity Read ↗

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.Semantic proximity Read ↗

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.Semantic proximity Read ↗

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.Semantic proximity Read ↗

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Semantic proximity Read ↗

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.Semantic proximity Read ↗

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.Semantic proximity Read ↗

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.Semantic proximity Read ↗

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.Semantic proximity Read ↗

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.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 ↗

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