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

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Su Lisha, Zhu Chaofeng, Wu Jing, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI). METHODS: Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing. RESULTS: The patient was a 3-year-and-9-month old boy whom has featured abdominal...

Topics

Join the communities discussing this publication.

Exome Sequencing
Child
Genetic Testing
Infant
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36184091
DOI: 10.3760/cma.j.cn511374-20211005-00799

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

[Clinical features and genetic analysis of a child with glycogen storage disease type VI].PMID 36184091Read ↗

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

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.Semantic proximity Read ↗

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

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.Semantic proximity Read ↗

[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].Semantic proximity Read ↗

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].Semantic proximity Read ↗

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.Semantic proximity Read ↗

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.Semantic proximity Read ↗

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

Novel variants in Turkish patients with glycogen storage disease.Semantic proximity Read ↗

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

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

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