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 novel mutation in the PHKA2 gene in a child with liver cirrhosis.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Beyzaei Zahra, Ezgu Fatih, Imanieh Mohammad Hadi, Geramizadeh Bita

Abstract excerpt

OBJECTIVES: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation. CASE PRESENTATION: we describe a 3-year-old boy who suffered from hepatomegaly, fatty liver disease, and liver...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Glycogen Storage Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepatomegaly

Share to Liver Cirrhosis

Share to Mutation

Source

Identifiers

PMID: 34727590
DOI: 10.1515/jpem-2021-0385

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

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.PMID 34727590Read ↗

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.Semantic proximity Read ↗

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.Semantic proximity Read ↗

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

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

[Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].Semantic proximity Read ↗

A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.Semantic proximity Read ↗

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.Semantic proximity Read ↗

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.Semantic proximity Read ↗

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.Semantic proximity Read ↗

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

Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.Semantic proximity Read ↗

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

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