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

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

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

Zheng Yucan, Kong Guiping, Hu Guorui, Zheng Bixia, Li Mei

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genetic Testing

Share to Mutation

Source

Identifiers

PMID: 35076922
DOI: 10.3760/cma.j.cn511374-20201225-00913

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

[Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].PMID 35076922Read ↗

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

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

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

A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.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 With a Novel Mutation in PYGL 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 ↗

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

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

[A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation].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 ↗

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