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

[Genetic and clinical characteristics of 26 cases with glycogen storage disease type Ⅲ].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Nov 2024

Zhang X Y, Zhang P, Feng J Y, Li X H, Lu Y, Xie X B, Wang J S

Abstract excerpt

Objective: To investigate the genetic, clinical, and post-treatment characteristics of patients with glycogen storage disease type Ⅲ (GSD Ⅲ). Methods: A retrospective cohort analysis was performed on the genetic and clinical data of 26 cases with GSD Ⅲ who visited the Children's Hospital affiliated with Fudan University from June 2017 to December 2023. The patients were divided into non-missense variation and...

Topics

Join the communities discussing this publication.

Child
Child, Preschool
Genotype
Glycogen Debranching Enzyme System
Hepatomegaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 39623576
DOI: 10.3760/cma.j.cn501113-20240719-00336
PMCID: PMC12899069

Genes

TG
AGL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic and clinical characteristics of 26 cases with glycogen storage disease type Ⅲ].PMID 39623576Read ↗

Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.Semantic proximity Read ↗

[Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases].Semantic proximity Read ↗

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Semantic proximity Read ↗

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

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.Semantic proximity Read ↗

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.Semantic proximity Read ↗

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

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapiesSemantic proximity Read ↗

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

Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and TreatmentSemantic proximity Read ↗

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)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.