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

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Journal of medical case reports - 12 Jan 2024

Zamanfar Daniel, Hashemi-Soteh Seyed MohammadBagher, Ghazaiean Mobin, Keyhanian Elham

Abstract excerpt

BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the...

Read the complete abstract on PubMed

Topics

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

Share to Abdominal Pain
Share to Constipation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease

Share to Glycogen Storage Disease Type I

Share to Hepatomegaly

Share to Transaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 38212860
DOI: 10.1186/s13256-023-04295-0
PMCID: PMC10785502

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

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.PMID 38212860Read ↗

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

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

Novel sequence of PHKG2 mutation associated with first case of glycogen storage disease type IXc in Syria: a case reportSemantic proximity Read ↗

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

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

Clinical Analysis and Long-term Treatment Monitoring of 3 Patients with Glycogen Storage Disease Type IbSemantic proximity Read ↗

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].Semantic proximity Read ↗

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Semantic proximity Read ↗

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 ↗

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

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.Semantic proximity Read ↗

Glycogen storage disease Ia complicated with multiple hepatic adenomas: a case report and literature reviewSemantic proximity Read ↗

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