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

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Journal of clinical neuromuscular disease - 1 Jun 2018

Nazari Ferdos, Sinaei Farnaz, Nilipour Yalda, Petit François, Oveisgharan Shahram, Nassiri-Toosi Mohsen, Razzaghy-Azar Maryam, Mahmoudi Mahdi, Nafissi Shahriar

Abstract excerpt

OBJECTIVES: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. METHODS: Clinical and laboratory data of 5 patients with...

Topics

Join the communities discussing this publication.

Adolescent
Glycogen
Glycogen Debranching Enzyme System
Iran
Liver Transplantation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Source

Identifiers

PMID: 29794575
DOI: 10.1097/CND.0000000000000212

Genes

AGL

Variants

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

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.PMID 29794575Read ↗

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.Semantic proximity Read ↗

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.Semantic proximity Read ↗

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.Semantic proximity Read ↗

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.Semantic proximity Read ↗

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.Semantic proximity Read ↗

Molecular characterization of glycogen storage disease type III.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 ↗

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

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.Semantic proximity Read ↗

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

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.Semantic proximity Read ↗

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