ArticleMolecular genetics & genomic medicine2019
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 21 citations in OpenAlex.
- Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital.Molecular genetics and metabolism reports · 2026Article
- Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.Science advances · 2026Article
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 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
- Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study.Orphanet journal of rare diseases · 2024Article
- A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.BMC medical genomics · 2024Article
- Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.Genes · 2023Article
- Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.The Journal of international medical research · 2023Review
- Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.PloS one · 2023Article
- Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.Frontiers in genetics · 2022Article
- Review
- The natural history of glycogen storage disease type Ib in England: A multisite survey.JIMD reports · 2021Article
- The rs2229611 (Molecular genetics and metabolism reports · 2020Article
- Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Molecular genetics & genomic medicine · 2020Article
- Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.
methodsWe analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools.
resultsTwenty-seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene.
conclusionsThe study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.
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