ArticleJournal of medical genetics1996
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 50 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
- The induced-fit and catalytic mechanisms of human G6PC1.Cell discovery · 2025Article
- High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.JHEP reports : innovation in hepatology · 2022Article
- Neurological Characteristics of Pediatric Glycogen Storage Disease.Frontiers in endocrinology · 2021Observational
- Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.Molecular genetics & genomic medicine · 2019Article
- Hepatic stress associated with pathologies characterized by disturbed glucose production.Cell stress · 2019Review
- Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia.Journal of inherited metabolic disease · 2018Review
- Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.Genetics and molecular biology · 2013Article
- Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Human mutation · 2008Review
- Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia.Journal of inherited metabolic disease · 2001Article
- Glycogen storage disease type 1a in three siblings with the G270V mutation.Journal of inherited metabolic disease · 1999Article
- Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.Journal of inherited metabolic disease · 1999Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Both alleles of 24 French glycogen storage disease type 1a patients were sequenced: 14 different mutations allowed the identification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, account for 75% of the mutated alleles. These data show that the molecular pathology of the glucose-6-phosphatase gene is heterogeneous in this population. Complete genotyping of the index case by systematic sequencing is necessary to allow prenatal diagnosis in chorionic villi for at risk couples.
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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.