ArticleScientific reports2021
Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Pooled it
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.Orphanet journal of rare diseases · 2025Article
- Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum.World journal of clinical pediatrics · 2025Article
- Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.Orphanet journal of rare diseases · 2025Article
- Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.Data in brief · 2025Article
- Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.PloS one · 2025Article
- Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.World journal of clinical pediatrics · 2024Article
- Article
- Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.The Journal of international medical research · 2023Review
- Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.Frontiers in genetics · 2023Article
- Liver transplantation in glycogen storage disease: a single-center experience.Orphanet journal of rare diseases · 2022Article
- Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.Frontiers in genetics · 2022Article
- Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.PloS one · 2022Article
- Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.BMC pediatrics · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.