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

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

Scientific reports - 29 Mar 2021

Beyzaei Zahra, Ezgu Fatih, Geramizadeh Bita, Imanieh Mohammad Hadi, Haghighat Mahmood, Dehghani Seyed Mohsen, Honar Naser, Zahmatkeshan Mojgan, Jassbi Amirreza, Mahboubifar Marjan, Alborzi Alireza

Abstract excerpt

Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Glycogen Storage Disease

Share to Infant

Share to Infant, Newborn

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33782433
DOI: 10.1038/s41598-021-86338-4
PMCID: PMC8007705

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.PMID 33782433Read ↗

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

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

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

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.Semantic proximity Read ↗

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

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.Semantic proximity Read ↗

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

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

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

Genetic diagnosis of Jordanian patients with glycogen storage diseases.Semantic proximity Read ↗

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

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).Semantic proximity Read ↗

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