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

Rapid detection of glycogen storage disease type Ia by DNA microarray.

Clinical chemistry and laboratory medicine - 1 Sept 2010

Xu Shanshan, Qin Shengying, Gu Xuefan, Qiu Wenjuan, Ye Jun, Han Lianshu, He Lin

Abstract excerpt

BACKGROUND: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder, and diagnosis depends on genetic testing. Recently, microarray analysis has become a useful new technique for mutation analysis. We developed a GSD Ia microarray capable of identifying known mutations in the G6PC gene and validate the feasibility of using it as a rapid detection method for DNA-based diagnosis. METHODS: An...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Feasibility Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type I

Share to Infant

Share to Oligonucleotide Array Sequence Analysis

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Time Factors

Source

Identifiers

PMID: 20509832
DOI: 10.1515/CCLM.2010.244

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

Rapid detection of glycogen storage disease type Ia by DNA microarray.PMID 20509832Read ↗

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.Semantic proximity Read ↗

Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by microarray-based assay.Semantic proximity Read ↗

Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.Semantic proximity Read ↗

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

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.Semantic proximity Read ↗

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.Semantic proximity Read ↗

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.Semantic proximity Read ↗

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

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

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.Semantic proximity Read ↗

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.Semantic proximity Read ↗

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.Semantic proximity Read ↗

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